Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
| Autor: | Michael Field, Louise Christie, Anne-Marie Bisgaard, Avril Vaux Brereton, Ana Cristina Victorino Krepischi-Santos, Gillian Turner, Fikret Erdogan, Bruce J. Tonge, Alyssa Hill, Lynn Banna, Angela Maria Vianna-Morgante, Claus Hultschig, Ines Müller, Maria Kirchhoff, Reinhard Ullmann, Georg Wieczorek, Carla Rosenberg, Hans-Hilger Ropers, Wei Chen |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Biology Polymerase Chain Reaction Cohort Studies Gene Duplication Intellectual Disability Gene duplication Genetics medicine Humans Genetic Predisposition to Disease Copy-number variation Autistic Disorder Child Genetics (clinical) In Situ Hybridization Fluorescence Chromosome Infant Nucleic Acid Hybridization Karyotype medicine.disease Chromosome Banding Pedigree Male patient Child Preschool Autism Female Chromosomes Human Pair 16 Comparative genomic hybridization |
| Zdroj: | Human mutation. 28(7) |
| ISSN: | 1098-1004 |
| Popis: | Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions and duplications as a common cause of MR, prompting us to search for such genomic imbalances in autism. Here we describe a 1.5-Mb duplication on chromosome 16p13.1 that was found by high-resolution array CGH in four severe autistic male patients from three unrelated families. The same duplication was identified in several variably affected and unaffected relatives. A deletion of the same interval was detected in three unrelated patients with MR and other clinical abnormalities. In one patient we revealed a further rearrangement of the 16p13 imbalance that was not present in his unaffected mother. Duplications and deletions of this 1.5-Mb interval have not been described as copy number variants in the Database of Genomic Variants and have not been identified in >600 individuals from other cohorts examined by high-resolution array CGH in our laboratory. Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR. |
| Databáze: | OpenAIRE |
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