Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

ABSTRACT: Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs). We performed array comparative genomic hybridization using a custom Agilent 1 M oligonucleotide array intended to cover 197 332 unique exons in RefSeq genes; 98% were covered by at least one probe and 95% were covered by three or more probes with the focus on detecting relatively small CNVs that would implicate a single protein-coding gene. The study group included 99 trios from the Simons Simplex Collection. The analysis identified and validated 55 potentially pathogenic CNVs, categorized as de novo autosomal heterozygous, inherited homozygous autosomal, complex autosomal and hemizygous deletions on the X chromosome of probands. Tw

SUBMITTER: Celestino-Soper PB 

PROVIDER: S-EPMC3196886 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature