A 1.5Â Mb terminal deletion of 12p associated with autism spectrum disorder

Article ID	Journal	Published Year	Pages	File Type
2816436	Gene	2014	4 Pages	PDF

Abstract

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Â Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient.

Keywords

CNV hg19 NIMA WNK1 Rad52 KDM5A DGV CGH aCGH DSM-IV BAC array CGH Attention deficit disorder attention deficit hyperactivity disorder Autism spectrum disorder Array comparative genomic hybridization ADD ADHD Neurodevelopmental delay comparative genomic hybridization Diagnostic and Statistical Manual of Mental Disorders, fourth edition fluorescence in situ hybridization CARS Fish Childhood Autism Rating Scale ASD Database of genomic variants bacterial artificial chromosome