Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7

Seizure. 2018 Jul:59:38-40. doi: 10.1016/j.seizure.2018.04.016. Epub 2018 Apr 26.

Abstract

Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.

Keywords: 13q34 deletion; ARHGEF7; Epilepsy; SOX1.

Publication types

  • Case Reports

MeSH terms

  • Brain / drug effects
  • Brain / physiopathology
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Epilepsy, Generalized / drug therapy
  • Epilepsy, Generalized / genetics*
  • Epilepsy, Generalized / pathology
  • Epilepsy, Generalized / physiopathology
  • Face / abnormalities
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intellectual Disability / physiopathology
  • Male
  • Phenotype
  • Rho Guanine Nucleotide Exchange Factors / genetics
  • SOXB1 Transcription Factors / genetics
  • Siblings

Substances

  • ARHGEF7 protein, human
  • Rho Guanine Nucleotide Exchange Factors
  • SOX1 protein, human
  • SOXB1 Transcription Factors