A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders
| Autor: | Dominique Letessier, Jean-Michel Dupont, Nouha Essid, Géraldine Viot, Fatma Abdelhedi, Laila El Khattabi, Aziza Lebbar |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Candidate gene 03 medical and health sciences Intellectual Disability Intellectual disability Genetics medicine Humans Genetic Predisposition to Disease Gene Genetics (clinical) Adaptor Proteins Signal Transducing Chromosomes Human Pair 10 Microarray analysis techniques business.industry Mental Disorders Infant Newborn Infant Chromosome medicine.disease Phenotype 030104 developmental biology Child Preschool Mutation Chromosomal region Chromosome Deletion Abnormality business |
| Zdroj: | American Journal of Medical Genetics Part A. 170:1912-1917 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.37686 |
| Popis: | Chromosomal microarray analysis has become a powerful diagnostic tool in the investigation of patients with intellectual disability leading to the discovery of dosage sensitive genes implicated in the manifestation of various genomic disorders. Interstitial deletions of the short arm of chromosome 10 represent rare genetic abnormalities, especially those encompassing the chromosomal region 10p11-p12. To date, only 10 postnatal cases with microdeletion of this region have been described, and all patients shared a common phenotype, including intellectual disability, abnormal behavior, distinct dysmorphic features, visual impairment, and cardiac malformations. WAC was suggested to be the main candidate gene for intellectual disability associated with 10 p11-p12 deletion syndrome. Here, we describe a new case of de novo 10p11.23-p12.1 microdeletion in a patient with intellectual disability, abnormal behavior, and distinct dysmorphic features. Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. Our data also led us to propose a clinical pathway for patients with this recognizable genetic syndrome depending on the facial dysmorphisms. © 2016 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text