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

Gene. 2014 May 25;542(1):83-6. doi: 10.1016/j.gene.2014.02.058. Epub 2014 Mar 5.

Abstract

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb 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: 12p13.33 microdeletion; Array comparative genomic hybridization; Autism spectrum disorder; ERC1; Neurodevelopmental delay.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Child
  • Child Development Disorders, Pervasive
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12 / genetics*
  • Developmental Disabilities / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Karyotype
  • Male
  • Nerve Tissue Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • ERC1 protein, human
  • Nerve Tissue Proteins