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17q12 Recurrent Duplication

, MD, PhD, , MS, CGC, and , PhD.

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Initial Posting: .

Summary

Clinical characteristics.

In individuals with clinical manifestations the 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. Speech delay is common, and most affected individuals have some degree of gross motor delay. Seizures are present in 75%. Up to one third have eye or vision problems; cardiac and renal anomalies occur in rare cases. Other neurodevelopmental and psychiatric conditions reported in a subset of affected individuals are autism spectrum disorder, schizophrenia, and behavioral abnormalities (aggression and self-injury). The 17q12 recurrent duplication likely has reduced penetrance and variable expressivity since it is inherited in most instances from a parent who is often minimally affected or phenotypically normal.

Diagnosis/testing.

The 17q12 recurrent duplication is diagnosed by detection of a 1.4-Mb submicroscopic heterozygous duplication at the approximate position of chr17:34,815,072-36,192,492 Mb [GRCh37/hg19] in the reference genome. Individuals found to have this rare duplication were typically referred for testing because of intellectual disability and/or developmental delays, and occasionally because of multiple congenital anomalies.

Management.

Treatment of manifestations: Treatment should be tailored to the specific needs of the individual. Those with developmental delays, cognitive disability, and/or behavioral problems should be evaluated by a neurodevelopmental pediatrician or clinical psychologist/psychiatrist. Seizures should be managed by a neurologist using standard practice. Individuals with cardiac or renal abnormalities should be managed by the appropriate specialist.

Surveillance: Regular assessment of psychomotor development is recommended for all children with the 17q12 recurrent duplication as well as psychological evaluation in both affected children and adults.

Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in at-risk relatives to identify as early as possible those who would benefit from close assessment/monitoring of developmental milestones in childhood or psychological assessment/intervention through adulthood.

Genetic counseling.

The 17q12 recurrent duplication is inherited in an autosomal dominant manner, with approximately 10% of duplications occurring de novo and approximately 90% inherited from a parent who is often minimally affected or phenotypically normal. Prenatal diagnosis for at-risk pregnancies requires prior identification of the duplication in an affected family member. Interpretation of results from prenatal testing is challenging given the inherent difficulty in accurately predicting the phenotype.

Diagnosis

Individuals with the 17q12 recurrent duplication have variable clinical manifestations. The duplication does not lead to a clinically recognizable syndrome, and a subset of individuals with the duplication have no obvious clinical phenotype. Therefore, no formal clinical diagnostic criteria have been established.

Suggestive Findings

The 17q12 recurrent duplication should be suspected in individuals with the following:

  • Intellectual disability
  • Developmental delays
  • Multiple congenital anomalies
  • Variable dysmorphic features
  • Renal malformations

Of note, most individuals with the 17q12 recurrent duplication are identified by chromosomal microarray analysis (CMA) performed in the context of evaluation for developmental delay, intellectual disability, and/or autism spectrum disorder.

Establishing the Diagnosis

The diagnosis of the 17q12 recurrent duplication is established by detection of the 1.4-Mb heterozygous duplication at chromosome 17q12.

For this GeneReview, the 17q12 recurrent duplication is defined as the presence of a 1.4-Mb submicroscopic heterozygous duplication at the approximate position of chr17: 34,815,072-36,192,492 Mb [GRCh37/hg19] in the reference genome.

Note: The phenotype of significantly larger or smaller duplications or deletions within this region may be clinically distinct from the 17q12 recurrent duplication (see Genetically Related Disorders).

Although several genes of interest (e.g., ACACA, LHX1, HNF1B) are within the 1.4 Mb recurrent duplication, no single gene has been identified as causative of the associated phenotypes (see Molecular Genetics for genes of interest in the duplicated region).

Genomic testing methods that determine the copy number of sequences in DNA can include chromosomal microarray (CMA) or targeted deletion/duplication analysis.

Note: The 17q12 recurrent duplication is submicroscopic and cannot be identified by routine analysis of G-banded chromosomes or other conventional cytogenetic banding techniques.

  • Chromosomal microarray (CMA) using oligonucleotide arrays or SNP arrays can detect the recurrent duplication in a proband. The ability to size the duplication depends on the type of microarray used and the density of probes in the 17q12 region.
    Note: (1) Most individuals with the 17q12 recurrent duplication are identified by CMA performed in the context of developmental delay, intellectual disability, and/or autism spectrum disorders. (2) Prior to 2008, many CMA platforms did not include coverage for this region and thus may not have detected this deletion.
  • Targeted duplication analysis. FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA) or other targeted quantitative methods may be used to test relatives of a proband known to have the 17q12 recurrent duplication.
    Note: (1) Targeted duplication testing is not appropriate for an individual in whom the 17q12 recurrent duplication was not detected by CMA designed to target this region. (2) It is not possible to size the duplication routinely by use of targeted methods.

Table 1.

Genomic Testing used in the 17q12 Recurrent Duplication

Duplication 1ClinGen
ID 2
Region
Location 3
Test
Method
Test Sensitivity
ProbandAt-risk family members
1.4-Mb heterozygous duplication at 17q1237432GRCh37/hg19 chr17: 34,815,072-36,192,492CMA 4100%100%
Targeted duplication analysis 6NA 7Up to 100% 8
1.

See Molecular Genetics for details of the duplication and genes of interest included in the region.

2.

Standardized clinical annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays (ISCA) Consortium)

3.

Genomic coordinates represent the minimum duplication size associated with the 17q12 recurrent duplication as designated by ClinGen. Duplication coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the duplication as calculated from these genomic positions may differ from the expected duplication size due to the presence of segmental duplications near breakpoints. The phenotype of significantly larger or smaller duplication or deletions within this region may be clinically distinct from the 17q12 recurrent duplication (see Genetically Related Disorders).

4.

Chromosomal microarray analysis (CMA) using oligonucleotide or SNP arrays. CMA designs in current clinical use target the 17q12 region. Note: The 17q12 recurrent duplication may not have been detectable by older oligonucleotide or BAC platforms.

6.

Targeted duplication analysis methods can include: FISH, quantitative PCR (qPCR), and multiplex ligation-dependent probe amplification (MLPA) as well as other targeted quantitative methods.

7.

Not applicable; targeted duplication analysis is not appropriate for an individual in whom the 17q12 recurrent duplication was not detected by CMA designed to target this region.

8.

Targeted duplication analysis may be used to test at-risk relatives of a proband known to have the 17q12 recurrent duplication.

Evaluating at-risk relatives. FISH, qPCR, or other quantitative methods of targeted duplication analysis can be used to identify the 17q12 recurrent duplication in at-risk relatives of the proband. Testing of parental samples is important in determining recurrence risk (see Genetic Counseling).

Clinical Characteristics

Clinical Description

The 17q12 recurrent duplication was first reported in 2006 in a single individual with intellectual disability [Sharp et al 2006]. Since that initial description, at least 46 individuals with some phenotype data have been published [Sharp et al 2006, Mefford et al 2007, Mencarelli et al 2008, Nagamani et al 2010, Faguer et al 2011, Brandt et al 2012, Bierhals et al 2013, Girirajan et al 2013, Hardies et al 2013, Smigiel et al 2014, Mitchell et al 2015]. Individuals found to have this rare duplication were typically referred for testing because of intellectual disability and/or developmental delays, and occasionally because of multiple congenital anomalies. The 17q12 recurrent duplication likely also has reduced penetrance and variable expressivity since it is inherited in most instances from a parent with findings reported to be minimally abnormal or normal.

Table 2.

Frequency of Phenotypic Features in 46 Published Cases of 17q12 Recurrent Duplication

Phenotypic Feature# of Persons with Feature / # of Persons Reported to be Examined for the Feature
Intellectual disability30/34 (88%)
Dysmorphic features25/35 (71%)
Speech delay24/28 (86%)
Gross motor delay17/29 (59%)
OFC <5th centile16/31 (52%)
Behavioral abnormalities15/16 (94%)
Skeletal abnormalities15/19 (79%)
Seizures/epilepsy12/16 (75%)
Hypotonia11/15 (73%)
Other neurologic abnormalities11/13 (85%)
Height <5th centile9/32 (28%)
Ophthalmologic abnormalities9/21 (43%)
Weight <5th centile8/32 (25%)
Endocrine abnormalities6/8 (75%)
Weight >95th centile5/32 (16%)
Cardiac abnormalities5/19 (26%)
Renal abnormalities5/21 (24%)
Height >95th centile2/32 (6%)

Based on Mitchell et al [2015] and two cases published subsequently by Bertini et al [2015]

Developmental delay and intellectual disability (ID). Intellectual abilities range from normal to severe ID. The majority of affected individuals (30/34) are reported to have delays or intellectual disability. However, the true incidence may be lower given variable expressivity and the ascertainment bias that is present due to the fact that most individuals who are found to have the 17q12 duplication are referred because of developmental delays or ID. Speech delay is common (24/28). Most affected individuals (17/29) have some degree of gross motor delay.

Seizures are reported in at least 75% of affected individuals. MRI occasionally reveals abnormalities including focal cortical dysplasia, agenesis of the corpus callosum, periventricular leukomalacia, and possible schizencephaly.

Dysmorphic features. Most affected individuals have minor dysmorphisms, but there are no consistent features.

  • Numerous dysmorphic features have been reported in one individual.
  • Features reported in three or fewer individuals include trigonocephaly, plagiocephaly, low hairline, synophrys, thick eyebrows, long eyelashes, deeply set eyes, prominent ears, bulbous nose, thick lips, and short philtrum.
  • Five individuals with slanted palpebral fissures (specifically 3 upslanted and 2 downslanted) have been described.

Eye or vision abnormalities including strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia occur in up to 43% of individuals.

Microcephaly is reported in approximately 50% of patients.

Other neurodevelopmental and psychiatric conditions reported in a subset of affected individuals are autism spectrum disorder, schizophrenia, and behavioral abnormalities (including aggression and self-injury and compulsive disorders).

Other anomalies. Though described in some individuals, other anomalies are not frequent.

  • Cardiac. The most common reported congenital heart defect is a small ventricular septal defect.
  • Renal abnormalities, present in approximately 25% of individuals, include horseshoe kidney, renal cysts, and hypoplastic kidneys.
  • Tracheoesophageal fistula has been reported in three patients.

Penetrance

The penetrance of the 17q12 recurrent duplication has not been established. Although an estimated penetrance of approximately 21% has been proposed [Rosenfeld et al 2013], the majority of 17q12 recurrent duplications are inherited from a parent who is often minimally affected or phenotypically normal, making the true penetrance difficult to ascertain.

Prevalence

In four studies of apparently unaffected controls, the 17q12 recurrent duplication was present in 1/2443 individuals [International Schizophrenia Consortium 2008, Itsara et al 2009, Shaikh et al 2009, Moreno-De-Luca et al 2010]. In a population study of 101,655 individuals from Iceland, the prevalence was 1/2,675 [Stefansson et al 2014]

In two different studies of individuals with intellectual disability, developmental delay or autism, the 17q12 recurrent duplication was reported in 5/2,034 (0.25%) individuals [Mitchell et al 2015] and 21/15,749 (0.13%) [Moreno-De-Luca et al 2010]; however, the frequency is much lower when accounting for all samples submitted in a clinical laboratory setting (19/22,231, 0.085%) [Mitchell et al 2015].

In a cohort of individuals with schizophrenia, the 17q12 recurrent duplication was identified in 4/4,719 (0.08%) individuals [Szatkiewicz et al 2014].

Differential Diagnosis

The differential diagnosis of the 17q12 recurrent duplication is broad due to the variable spectrum and presence of relatively common abnormal phenotypes that occur in affected individuals including developmental delay, intellectual disability, epilepsy, behavioral abnormalities, microcephaly, and others.

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with the 17q12 recurrent duplication, the following evaluations are recommended:

  • General clinical examination
  • Assessment by neurodevelopmental pediatrician and/or clinical psychologist/psychiatrist to determine extent of delays
  • Evaluation by a neurologist if neurologic features are present or there is suspicion of seizures
  • Ophthalmologic evaluation
  • Echocardiogram
  • Renal ultrasound examination
  • Consultation with gastroenterologist and/or feeding team for GI concerns, suspected dysphagia, or feeding difficulties
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Treatment should be tailored to the specific needs of the individual. Those with developmental delays, cognitive disability, behavioral problems, or psychological phenotypes (autism spectrum disorder, schizophrenia) should be evaluated by a neurodevelopmental pediatrician or clinical psychologist/psychiatrist for treatment recommendations.

Seizures should be managed by a neurologist using standard practice.

Individuals with cardiac, ophthalmic, or renal abnormalities should be managed by the appropriate specialist.

Surveillance

Regular assessment of psychomotor development is recommended for all children with the 17q12 recurrent duplication. Referral to an early intervention program will likely be of considerable benefit.

Evaluation of Relatives at Risk

It is appropriate to employ genetic testing to evaluate the older and younger sibs of a proband previously found to have the 17q12 recurrent duplication in order to identify as early as possible those who would benefit from close assessment/monitoring of developmental milestones in childhood or psychological issues through adulthood.

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

Therapies Under Investigation

Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to information on clinical studies for a wide range of diseases and conditions.

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

The 17q12 recurrent duplication is inherited in an autosomal dominant manner; approximately 10% of duplications occur de novo and approximately 90% are inherited from a parent.

Risk to Family Members

Parents of a proband

  • Evaluation of parents by FISH, qPCR, or other quantitative methods of targeted duplication analysis that will detect the 17q12 recurrent duplication present in the proband is recommended.
  • Although not described to date, there is a theoretic but unlikely possibility that a parent could have somatic or germline mosaicism for the 17q12 recurrent duplication.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the parents:

  • If the 17q12 recurrent duplication identified in the proband is not identified in either of the parents, the risk to sibs is slightly greater than that of the general population (though still <1%) because of the possibility of parental germline mosaicism for the duplication.
  • If one of the parents has the 17q12 recurrent duplication, the risk to each sib of inheriting the duplication is 50%. However, it is not possible to reliably predict the phenotype of the individual.

Offspring of a proband. Offspring of an individual with the 17q12 recurrent duplication have a 50% chance of inheriting the duplication. However, it is not possible to reliably predict the phenotype of the individual.

Other family members. The risk to other family members depends on the genetic status of the proband’s parents: if a parent has the 17q12 recurrent duplication, his or her family members may also have the duplication.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy. Similarly, decisions about testing to determine the genetic status of at-risk asymptomatic family members are best made before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are at risk of having a child with the 17q12 recurrent duplication.

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

Pregnancies known to be at increased risk for the 17q12 recurrent duplication. Prenatal testing and preimplantation genetic diagnosis using FISH, qPCR, or other quantitative methods of targeted duplication analysis that will detect the 17q12 recurrent duplication found in the proband may be offered when:

  • A parent has the 17q12 recurrent duplication;
  • The parents do not have the recurrent duplication but have had a child with the 17q12 recurrent duplication. In this instance, the recurrence risk associated with the possibility of parental germline mosaicism or other predisposing genetic mechanisms is probably slightly greater than that of the general population (though still <1%).

Pregnancies not known to be at increased risk for the 17q12 recurrent duplication. CMA performed in a pregnancy for other indications (e.g., advanced maternal age) may detect the recurrent 17q12 duplication.

Note: Regardless of whether a pregnancy is known or not known to be at increased risk for the 17q12 recurrent duplication, prenatal test results cannot reliably predict the phenotype.

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.

  • Chromosome Disorder Outreach (CDO)
    PO Box 724
    Boca Raton FL 33429-0724
    Phone: 561-395-4252 (Family Helpline)
    Email: info@chromodisorder.org
  • Unique: The Rare Chromosome Disorder Support Group
    G1 The Stables
    Station Road West
    Oxted Surrey RH8 9EE
    United Kingdom
    Phone: +44 (0) 1883 723356
    Email: info@rarechromo.org; rarechromo@aol.com

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.

17q12 Recurrent Duplication: Genes and Databases

GeneChromosome LocusProteinClinVar
Not applicable17q12Not applicable

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 17q12 Recurrent Duplication (View All in OMIM)

614526CHROMOSOME 17q12 DUPLICATION SYNDROME

Molecular Genetic Pathogenesis

Duplication mechanism. The 17q12 recurrent duplication region is flanked by segmental duplications (low copy repeats) and is therefore susceptible to nonallelic homologous recombination (NAHR) [Bailey et al 2002, Sharp et al 2006]. The breakpoints of the recurrent duplication lie within the segmental duplication regions.

Genes of interest in this region. The 1.4-Mb 17q12 recurrent duplication contains 16 unique genes (AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, and ZNHIT3). It is not known which gene(s) may be responsible for the phenotypic features seen in individuals with the 17q12 recurrent duplication.

Pathogenic variants in (or deletion of) HNF1B are associated with renal cysts and diabetes (RCAD) syndrome, and pathogenic variants in LHX1 have been described in individuals with müllerian aplasia/Mayer-Rokitansky-Küster-Hauser syndrome. However, whether or how mutation of these genes contributes to phenotypes associated with the 17q12 recurrent duplication is unknown.

Additional DNA copy number changes or other types of genetic variation may contribute to the phenotypic variability.

References

Literature Cited

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Chapter Notes

Revision History

  • 25 February 2016 (bp) Review posted live
  • 5 October 2015 (jh) Original submission
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