Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
Abstract
We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2 Mb deletion at 7q34–q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea. © 2010 Wiley‐Liss, Inc.
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Rare variation in CNTNAP2, including CNVs, other structural disruptions and deleterious sequence variation, has been identified in subjects with autism, epilepsy, intellectual disability, Pitt-Hopkins-like syndrome, schizophrenia and Tourette syndrome.
“More directly, rare variation in CNTNAP2, including CNVs, other structural disruptions and deleterious sequence variation, has been identified in subjects with autism, epilepsy, intellectual disability, Pitt-Hopkins-like syndrome, schizophrenia and Tourette syndrome (42–48), albeit with differing degrees of evidence for effect on these traits.”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [44]
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References 15 · Cited by 41
- Authors
- Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N., & Tümer, Z.
- Affiliations
- Roskilde Sygehus (DK)
- University of Copenhagen (DK)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Sehested, Line T.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-11-16
- Volume
- 152A
- Issue
- 12
- Pages
- 3115-3119
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2002078086
- Cited by
- 41
- References
- 15
- Citations by year
- 2026: 2 · 2024: 2 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 3 · 2017: 1 · 2016: 6 · 2015: 5 · 2014: 4 · 2013: 6 · 2012: 5
- FWCI
- 2.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Danmarks Grundforskningsfond
- Lundbeckfonden (R67-2010-6206)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- chromosomal rearrangements, intellectual disability, language delay, primary amenorrhea, dysmorphic features, CNTNAP2, NOBOX, haploinsufficiency, epilepsy, autism spectrum disorder, siblings, family segregation
- MeSH terms
- Adult, Amenorrhea, Cells, Cultured, Child, Child Development Disorders, Pervasive, Chromosome Deletion, Chromosomes, Human, Pair 7, DNA, Female, Humans, Language Development Disorders, Lymphocytes, Male, Intellectual Disability, Cytogenetic Analysis, Chromosomes, Artificial, Bacterial, Siblings
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