title: 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Trilochan
authors.initials: T
authors.lastname: Sahoo
authors.forename: Bruno
authors.initials: B
authors.lastname: Maranda
authors.forename: S A
authors.initials: SA
authors.lastname: Skinner
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Craig
authors.initials: C
authors.lastname: Chinault
authors.forename: Roxanne
authors.initials: R
authors.lastname: Zascavage
authors.forename: Sarika U
authors.initials: SU
authors.lastname: Peters
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics* / Q000473:pathology; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D046228:Microarray Analysis; D009765:Obesity / Q000235:genetics* / Q000473:pathology; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype