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Baraitser-Winter Cerebrofrontofacial Syndrome

, MD, PhD, , PharmD, PhD, , MD, PhD, and , MD, PhD.

Author Information

Initial Posting: .

Summary

Clinical characteristics.

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability (ID) that ranges from mild (usually in those with normal brain structure) to profound (typically in those with a neuronal migration defect). Many (but not all) affected individuals have iris or retinal coloboma, sensorineural deafness, and muscle wasting resulting in a peculiar stance with kyphosis, anteverted shoulders, and slightly flexed elbows and knees. Seizures, congenital heart defects, and renal malformations also are common.

Diagnosis/testing.

The diagnosis of BWCFF syndrome is established in a proband with a compatible clinical phenotype and a heterozygous gain-of-function variant in either ACTB or ACTG1.

Management.

Treatment of manifestations: Treatment is symptomatic. Developmental delay requires specific support (speech therapy, physical therapy) adapted to the severity of the handicap.

Surveillance: Routine follow up recommended for neurodevelopmental assessment in all; follow up as needed for those with coloboma (ophthalmologic evaluation), hearing loss (audiologic evaluation), cardiac defects, and renal tract anomalies.

Genetic counseling.

BWCFF syndrome is inherited in an autosomal dominant manner. To date, all affected individuals have had a de novo pathogenic variant. The risk to sibs is low but presumed to be greater than that of the general population because of the possibility of germline mosaicism. If the ACTB or ACTG1 pathogenic variant is known, prenatal testing for subsequent pregnancies of the parents of an affected child is possible.

GeneReview Scope

Baraitser-Winter Cerebrofrontofacial Syndrome: Included Phenotypes
  • Cerebrofrontofacial syndrome types 1 and 3
  • Fryns-Aftimos syndrome (pachygyria, mental retardation, epilepsy, and characteristic facies)
  • ACTB-related Baraitser-Winter cerebrofrontofacial syndrome with juvenile-onset dystonia (Baraitser-Winter cerebrofrontofacial syndrome, Gearing-Proccacio type)

For synonyms and outdated names see Nomenclature.

Diagnosis

Suggestive Findings

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome should be suspected in individuals with:

  • Typical craniofacial features (widely spaced eyes, bulbous nose with broad nasal tip and prominent nasal bridge, congenital non-myopathic ptosis, prominent metopic ridge, and highly arched eyebrows)
  • Intellectual disability

Many (but not all) may have:

  • Ocular coloboma
  • Predominantly frontal pachygyria
  • Wasting of the muscles of the shoulder girdle
  • Sensorineural hearing loss (SNHL)

Establishing the Diagnosis

The diagnosis of BWCFF syndrome is established in a proband with a compatible clinical phenotype and a gain-of-function heterozygous pathogenic variant in either ACTB or ACTG1 (see Table 1).

Molecular testing approaches can include serial single-gene testing, use of a multi-gene panel, and genomic testing.

  • Serial single-gene testing (i.e., sequence analysis of ACTB followed by sequence analysis of ACTG1 if no pathogenic variant is identified) can be considered. Note: Deletion/duplication analysis is not indicated since all pathogenic alleles reported to date are gain-of-function missense variants.
  • A multi-gene panel that includes ACTB and ACTG1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and over time.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • More comprehensive genomic testing including exome sequencing and (when available) genome sequencing may be considered if serial single-gene testing (and/or use of a multi-gene panel that includes ACTB and ACTG1) fails to confirm a diagnosis in an individual with features of Baraitser-Winter cerebrofrontofacial syndrome. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene that results in a similar clinical presentation).
    For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in Baraitser-Winter Cerebrofrontofacial (BWCFF) Syndrome

Gene 1Proportion of BWCFF Syndrome Attributed to Pathogenic Variants in This GeneProportion of Pathogenic Variants 2 Detected by Test Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
ACTB34/43 molecularly confirmed 5
(>60% clinically diagnosed 6)
All pathogenic variants reported to dateNot applicable 7
ACTG19/43 molecularly confirmed 5
(>20% clinically diagnosed 6)
All pathogenic variants reported to dateNot applicable 7
Unknown 6<20%NA
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that may be used include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

5.
6.

Author, personal observation

7.

All pathogenic variants reported to date are gain-of-function missense variants in ACTB or ACTG1; thus, testing for deletion (haploinsufficiency) or duplication (overexpression) is not indicated.

Clinical Characteristics

Clinical Description

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have iris or retinal coloboma, pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations [Verloes et al 2015].

Significant variation in clinical features is observed.

Dysmorphic features vary from mild to severe and evolve considerably over time. With age the facial features become significantly coarser. The face is round and flat in infancy. In those with more severe facial involvement, the widely spaced eyes are reminiscent of frontonasal dysplasia due to the degree of increased spacing. The coarser facial features of BWCFF syndrome in adulthood initially led to the delineation of Fryns-Aftimos syndrome [Fryns & Aftimos 2000] which is now known to be included in the phenotypic spectrum of BWCFF syndrome.

General craniofacial shape

  • Prominent metopic ridging or trigonocephaly (65%)
  • Flat malar region
  • Retrognathia with a pointed chin

Nose and mouth

  • Wide, short, thick and upturned nose, with a large, flat tip (85%), a thick columella, anteverted, thick nares, and a median grove (in the most severe cases)
  • Prominent nasal bridge, flat in its middle part
  • Long and smooth philtrum (84%) and thin vermilion border of the upper lip
  • Wide mouth with downturned corners, everted vermilion of the lower lip (45%)
  • Cleft lip and palate (10%)

Eyes

  • Widely spaced eyes (95%)
  • Bilateral ptosis (90%), which may require surgery
  • Long, often downslanted palpebral fissures, with or without epicanthus or epicanthus inversus (may resemble the ocular appearance in Kabuki syndrome)
  • Eyebrows usually highly arched (90%) and in continuity of the lateral edges of the nose
  • Uni- or bilateral ocular coloboma (30%) that may extend from the iris to the macula, sometimes with microphthalmia (10%)

Ears and hearing

  • The ears are often small with increased posterior angulation, sometimes anteverted pinnae, with an overfolded, thick helix and an underdeveloped antihelix (73%).
  • Sensorineural hearing loss of variable degree is present in 33% and can be progressive.
  • The inner ear may be malformed.

Neurologic

  • Epilepsy, of no specific type but variable severity (50%), associated with structural cerebral anomalies
  • Variable muscle involvement. Many affected individuals have a peculiar stance with kyphosis, anteverted shoulders, and slightly flexed elbows and knees, which may be associated with limited joint movement. Axillary and popliteal pterygia may be present at birth. A few have arthrogryposis multiplex congenita.
  • Increasingly difficult ambulation in some adults, which may indicate a slowly progressive myopathic process
  • Dystonia; observed in a set of monozygous twins with a unique pathogenic variant in ACTB. They also had progressive esophageal achalasia beginning at age 2 years [Gearing et al 2002]. At this point, the authors consider this phenotype part of the spectrum of BWCFF syndrome; however, more data are needed to establish this assumption.

Brain

  • Normal brain or pachygyria with frontal or predominantly central pachygyria (67%) to (rarely) severe lissencephaly of grade 1-2
  • Subcortical band and/or periventricular heterotopias (20%). Corpus callosum may be short, thick, or absent (20%) [Rossi et al 2003].

Psychomotor development is highly variable:

  • In children with normal brain structure, motor delay was common, but otherwise development was only mildly to moderately delayed. Intellectual disability (ID) was usually mild.
  • Among those with a neuronal migration defect, development was always delayed, ID varied from profound in those with severe lissencephaly grade 1-2 to mild ID in some with anterior pachygyria (grade 4-5) (grading system based on Dobyn’s classification) [Dobyns & Truwit 1995].

Other malformations

  • Pectus deformity
  • Congenital heart defects (33%)
  • Hydronephrosis (10%)
  • Horseshoe or ectopic kidneys and renal duplication (10%)
  • Broad thumbs and hallux
  • Rarely, duplication of the hallux

Growth

  • Normal intrauterine growth; moderate short stature observed in teenagers and adults
  • Head circumference typically low normal at birth; mild postnatal microcephaly develops in approximately 50%.

Malignancy. Whether the following two observations indicate a causal relationship or only a chance association is yet to be determined:

Genotype-Phenotype Correlations

The high clinical variability of BWCFF syndrome among individuals heterozygous for the same pathogenic variant does not allow a clear genotype/phenotype correlation. However, given the suggestive gain-of-function mechanism of actin pathogenic variants, variant-specific variability in the phenotype of these actinopathies is nevertheless expected.

Although ACTB pathogenic variants may be associated with a globally more severe phenotype, ACTG1 pathogenic variants appear to have more frequent CNS involvement [Di Donato et al 2014, Verloes et al 2015].

A pair of monozygous twins with infantile-onset dystonia had the BWCFF phenotype complicated by dystonia and achalasia [Gearing et al 2002]. Whether dystonia represents a rare nonspecific complication of BWCFF or a manifestation specific to the ACTB pathogenic variant p.Arg183Trp identified in these twins remains to be resolved.

Penetrance

The penetrance of BWCFF syndrome appears to be complete

Nomenclature

Cerebrofrontofacial syndrome type 1 and type 3 and Fryns-Aftimos syndrome represent the severe end of the BWCFF syndrome spectrum. As the same pathogenic variant can lead to any of these three phenotypes, those entities are not considered allelic disorders, but rather part of the phenotypic spectrum of Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome.

Prevalence

BWCFF syndrome is rare. Fewer than 50 individuals with a molecularly confirmed diagnosis have been reported to date. However, considering the phenotypic variability, it may be underdiagnosed.

Differential Diagnosis

Disorders to consider in the differential diagnosis of Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome include the following:

  • Hypertelorism, Teebi type (or brachycephalofrontonasal dysplasia) (OMIM 145420). This syndrome, of unknown etiology, is characterized by significantly widely spaced eyes. Some affected individuals may have undiagnosed BWCFF.
  • Noonan syndrome. In BWCFF syndrome without brain anomalies, the facial appearance in infancy (when the metopic ridge is absent), in association with a chest deformity and nuchal skinfolds or pterygium colli may falsely lead to a diagnosis of Noonan syndrome. Coloboma has been reported in some individuals with Noonan syndrome.
  • Kabuki syndrome. Individuals with Kabuki syndrome have long palpebral fissures reminiscent of BWCFF syndrome.

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, the following evaluations are recommended:

  • Ophthalmologic examination including fundoscopy
  • Hearing assessment
  • Brain MRI
  • EEG (if brain MRI is abnormal)
  • Neurology (adult or child) consultation in case of brain MRI anomaly and/or seizures
  • Neurocognitive evaluation
  • Echocardiogram for evidence of congenital heart defects
  • Abdominal ultrasound examination for evidence of malformation of the kidneys and/or ureters
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

There is no specific treatment of BWCFF syndrome. Symptomatic management involves the following.

  • Ptosis may require surgical treatment.
  • Coloboma and/or microphthalmia may lead to poor vision and require routine care for these findings.
  • Hearing loss may require routine care including hearing aids.
  • Epilepsy is treated using standard protocols.
  • Developmental delay requires specific support (speech therapy, physical therapy) adapted to the severity of the disability.
  • Malformations of the heart, urinary tract, and oral clefts are treated using standard procedures.

Surveillance

Appropriate surveillance includes the following:

  • Neurodevelopmental follow up by a multidisciplinary team involved in cognitive impairment and appropriate support
  • Coloboma or microphthalmia: ophthalmologic follow-up (at least yearly) with systematic screening for intraocular hypertension and glaucoma. Although glaucoma has not been reported to date, it is a known complication of colobomatous microphthalmia. Early detection allows specific treatment of intraocular hypertension.
  • Routine follow up of deafness for any evidence of progression
  • Cardiac defect: cardiology follow up (adapted to the type of congenital heart disease identified)
  • Renal tract anomaly: nephrology follow up adapted to the anomaly and the risk of renal insufficiency
  • Screening for malignancies. The risk of malignancies is not established for BWCFF syndrome; screening for hematologic malignancies must be considered in case of physical deterioration or unexplained chronic fever.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is inherited in an autosomal dominant manner. To date, all affected individuals have had a de novo pathogenic variant.

Risk to Family Members

Parents of a proband

Sibs of a proband. Because all probands with BWCFF syndrome reported to date have the disorder as a result of a de novo ACTB or ACTG1 pathogenic variant, the risk to sibs is low but presumed to be greater than that of the general population because of the possibility of germline mosaicism.

Offspring of a proband. Each child of an individual with BWCFF syndrome has a 50% chance of inheriting the ACTB or ACTG1 pathogenic variant. Individuals with BWCFF syndrome are not known to reproduce.

Other family members. The risk to other family members appears to be low given that all probands with BWCFF syndrome reported to date have the disorder as a result of a de novo ACTB or ACTG1 pathogenic variant.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to parents of affected individuals.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the ACTB or ACTG1 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for BWCFF syndrome are possible.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Baraitser-Winter Cerebrofrontofacial Syndrome: Genes and Databases

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Baraitser-Winter Cerebrofrontofacial Syndrome (View All in OMIM)

102560ACTIN, GAMMA-1; ACTG1
102630ACTIN, BETA; ACTB
243310BARAITSER-WINTER SYNDROME 1; BRWS1
607371DYSTONIA, JUVENILE-ONSET; DJO
614583BARAITSER-WINTER SYNDROME 2; BRWS2

Molecular Genetic Pathogenesis

The actin gene family consists of six different isoforms with a sequence similarity >93%. Four actins are muscle-specific (αsmooth- and γsmooth-actins in smooth muscle, αcardiac-actin in cardiac and αskeletal-actin in striated muscle) whereas βcyto- and γcyto-actins are highly expressed in non-muscular tissues and undifferentiated myoblasts, and minimally in differentiated myocytes.

Protein sequences of β- and γ-actins differ by only four biochemically similar amino acids among the ten N-terminal residues. By contrast, their cDNA sequences differ by more than 11%, resulting in distinct three-dimensional mRNA configurations. Polymerization of globular actin monomers (G-actin) leads to two-stranded filaments (F-actin) forming a helix to which kinesin motor proteins can bind, allowing the transport of vesicles, organelles, and other cargo in the cytoplasm. Furthermore, through polymerization and depolymerization of fibrils, actins play a crucial role in cell plasticity, cell motility, and cell division.

The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility, and play a role in sarcomere assembly. They have both cooperative interactions and partially non-redundant functions. All pathogenic variants associated with BWCFF syndrome reported to date are gain-of-function missense variants in ACTB or ACTG1; thus, the pathophysiology of BWCFF syndrome is not a dosage mechanism (i.e., haploinsufficiency or overexpression).

ACTB

Gene structure. ACTB (NC_000007.14). The main isoform (NM_001101.3) consisting of six coding exons (one non-coding) encodes the cytoplasmic protein beta-actin (NP_001092.1). For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. A number of pathogenic variants have been reported in ACTB [Rivière et al 2012, Verloes et al 2015].

The amino acid p.Arg196 is a hot spot: the pathogenic variants p.Arg196His and p.Arg196Cys have been found in almost 25% of individuals reported with BWCFF syndrome.

Other recurrent pathogenic variants include p.Gly74Ser, p.Thr120Ile, and those involving the p.Asn12 residue.

Some pathogenic variants in ACTB and ACTG1 affect amino acids occupying the same position in both proteins, for instance at the residue p.Thr120.

The pathogenic variant p.Arg183Trp is associated with the BWCFF syndrome phenotype with early onset, progressive dystonia, and progressive esophageal achalasia. The pathogenic variant was identified in a set of monozygous twins [Gearing et al 2002, Procaccio et al 2006]. Whether this phenotype is variant-specific or represents an expanded ACTB-related phenotype remains unknown.

Table 3.

ACTB Selected Pathogenic Variants

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.34A>Gp.Asn12AspNM_001101​.3
c.34A>Cp.Asn12His
c.193C>Gp.Leu65Val
c.220G>Ap.Gly74Ser
c.349G>Ap.Glu117Lys
c.359C>Tp.Thr120Ile
c.547C>Tp.Arg183Trp
c.586C>Tp.Arg196Cys
c.587G>Ap.Arg196His
c.625G>Ap.Val209Leu

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. The main isoform of β-actin is a protein of 375 amino acids. It contains one DNAse binding loop, one adenosine nucleotide binding domain, and a divalent cation binding domain. β-actin interacts with multiple cytoplasmic proteins.

Abnormal gene product. All pathogenic variants leading to BWCFF syndrome have a gain-of-function effect; however, the exact pathophysiologic link between the pathogenic variants and the resulting phenotype is yet unknown.

ACTG1

Gene structure. ACTG1 (NC_000017.11). The main isoform (NM_001614.3) consists of six coding exons (one non-coding) similar to ACTB. It encodes the cytoplasmic protein γ-actin (NP_001605.1). For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. A few variants have been reported in ACTG1 [Rivière et al 2012, Verloes et al 2015]. The amino acids p.Ala135 and p.Ser155 are hot spots.

Table 4.

ACTG1 Selected Pathogenic Variants

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.359C>Tp.Thr120IleNM_001614​.3
c.404C>Tp.Ala135Val
c.464C>Tp.Ser155Phe
c.608C>Ap.Thr203Lys
c.760C>Tp.Arg254Trp
c.766C>Tp.Arg256Trp

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. γ-actin is almost identical to β-actin. It consists of 375 amino acids. Primary sequences of γ-actin and β-actin differ only by four residues; however, the two proteins have distinct post-translational modifications.

Abnormal gene product. All pathogenic variants leading to BWCFF syndrome most probably have a gain-of-function effect; however, the exact pathophysiologic link between the pathogenic variants and the resulting phenotype is as yet unknown.

References

Literature Cited

  • Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. Eur J Hum Genet. 2014;22:179–83. [PMC free article: PMC3895648] [PubMed: 23756437]
  • Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995;26:132–47. [PubMed: 7477752]
  • Fryns JP, Aftimos S. New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. J Med Genet. 2000;37:460–2. [PMC free article: PMC1734613] [PubMed: 10928857]
  • Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, Wainer BH. Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. Ann Neurol. 2002;52:465–76. [PMC free article: PMC2821042] [PubMed: 12325076]
  • Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc Natl Acad Sci U S A. 1999;96:8693–8. [PMC free article: PMC17578] [PubMed: 10411937]
  • Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006;78:947–60. [PMC free article: PMC1474101] [PubMed: 16685646]
  • Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012;44:440-4, S1-2. [PMC free article: PMC3677859] [PubMed: 22366783]
  • Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003;34:287–92. [PubMed: 14681753]
  • Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015;23:292–301. [PMC free article: PMC4326722] [PubMed: 25052316]

Suggested Reading

Chapter Notes

Revision History

  • 19 November 2015 (me) Review posted live
  • 9 March 2015 (av) Original submission
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