11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
| Autor: | Sarika U. Peters, Marwan Shinawi, Craig Chinault, Trilochan Sahoo, Ankita Patel, Bruno Maranda, Arthur L. Beaudet, Cindy Skinner, Steve A. Skinner, Roger E. Stevenson, Roxanne R. Zascavage |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Developmental Disabilities WAGR syndrome Chromosome Disorders Neurological disorder Biology Intellectual disability Genetics medicine Humans Obesity Autistic Disorder Child In Situ Hybridization Fluorescence Genetics (clinical) Oligonucleotide Array Sequence Analysis Chromosomes Human Pair 11 Infant Microarray Analysis medicine.disease Phenotype Developmental disorder Attention Deficit Disorder with Hyperactivity Chromosomal region Autism PAX6 Chromosome Deletion |
| Zdroj: | American Journal of Medical Genetics Part A. 155:1272-1280 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.33878 |
| Popis: | Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. We identified four patients with overlapping interstitial deletions on 11p14.1 and extending telomeric to the WAGR critical domain. The minimal overlapping critical chromosomal region was 2.3 Mb at 11p14.1. The deletions encompass the BDNF and LIN7C genes that are implicated in the regulation of development and differentiation of neurons and synaptic transmission. All patients with this deletion exhibit variable degrees of developmental delay, behavioral problems, and obesity. Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems. |
| Databáze: | OpenAIRE |
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