Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy

Am J Med Genet A. 2014 Mar;164A(3):782-8. doi: 10.1002/ajmg.a.36345. Epub 2013 Dec 19.

Abstract

We present a patient with a behavioral disorder, epilepsy, and autism spectrum disorder who has a 520 kb chromosomal deletion at 15q26.1 encompassing three genes: ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.

Keywords: C15ORF32; FAM174B; ST8SIA2; autism spectrum disorder; epilepsy; genetic susceptibility; oligonucleotide microarray.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child Behavior Disorders / diagnosis
  • Child Behavior Disorders / genetics*
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Comparative Genomic Hybridization
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Facies
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Sialyltransferases / genetics*

Substances

  • CMP-N-acetylneuraminate-poly-alpha-2,8-sialosyl sialyltransferase
  • Sialyltransferases