NM_001101.3(ACTB):c.349G>A (p.Glu117Lys) AND Iris coloboma with ptosis, hypertelorism, and mental retardation

Clinical significance:Pathogenic (Last evaluated: Apr 15, 2014)

Review status:(0/4)0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000056289.27

Allele description [Variation Report for NM_001101.3(ACTB):c.349G>A (p.Glu117Lys)]

NM_001101.3(ACTB):c.349G>A (p.Glu117Lys)

Gene:
ACTB:actin, beta [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.3(ACTB):c.349G>A (p.Glu117Lys)
HGVS:
  • NC_000007.14:g.5529175C>T
  • NG_007992.1:g.6427G>A
  • NM_001101.3:c.349G>A
  • NP_001092.1:p.Glu117Lys
  • LRG_132t1:c.349G>A
  • LRG_132:g.6427G>A
  • LRG_132p1:p.Glu117Lys
  • NC_000007.13:g.5568806C>T
Protein change:
E117K; GLU117LYS
Links:
OMIM: 102630.0006; dbSNP: 397515470
NCBI 1000 Genomes Browser:
rs397515470
Molecular consequence:
  • NM_001101.3:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Iris coloboma with ptosis, hypertelorism, and mental retardation (BRWS1)
Synonyms:
BARAITSER-WINTER SYNDROME 1, ATYPICAL; Baraitser-Winter syndrome 1
Identifiers:
MedGen: C1855722; Orphanet: 2995; OMIM: 243310
Age of onset:
Neonatal/infancy
Prevalence:
<1 / 1 000 000 2995

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087459OMIMno assertion criteria providedPathogenic
(Oct 7, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000148639Department of Genetics,Robert DEBRE University Hospitalno assertion criteria providedPathogenic
(Apr 15, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Johnston JJ, Wen KK, Keppler-Noreuil K, McKane M, Maiers JL, Greiner A, Sapp JC; NIH Intramural Sequencing Center, Demali KA, Rubenstein PA, Biesecker LG.

Hum Mutat. 2013 Sep;34(9):1242-9. doi: 10.1002/humu.22350. Epub 2013 May 28.

PubMed [citation]
PMID:
23649928
PMCID:
PMC3745514

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

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, et al.

Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

PubMed [citation]
PMID:
25052316
PMCID:
PMC4326722

Details of each submission

From OMIM, SCV000087459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 7-year-old girl with atypical Baraitser-Winter syndrome-1 (243310), who had microcephaly, intellectual disability, and facial dysmorphism but no lissencephaly or seizures, Johnston et al. (2013) identified heterozygosity for a de novo c.349G-A transition in the ACTB gene, resulting in a glu117-to-lys (E117K) substitution. The mutation was not present in either of her unaffected parents. Patient lymphocytes demonstrated significantly decreased ability to adhere to a fibronectin-coated surface and formed few actin-rich protrusions compared to the parents' lymphocytes. Studies in yeast showed virtually complete loss of normal polarization of the cytoskeleton with the mutant, and mutant cells were almost completely resistant to the depolymerizing agent latrunculin A, suggesting that E117K might result in strengthened actin monomer-monomer interactions and increased filament stability.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Department of Genetics,Robert DEBRE University Hospital, SCV000148639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2015