A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations

Am J Med Genet A. 2018 Jul;176(7):1632-1636. doi: 10.1002/ajmg.a.38722. Epub 2018 Apr 28.

Abstract

The etiology of imperforate anus, a major phenotype of anorectal malformation (ARM), is still unknown and not a single gene has been reported to be associated with it. We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). This mutation is completely segregated with the disease phenotype in the family and is evolutionarily highly conserved among diverse vertebrates. Also, this mutation was predicted to be functionally damaging. These results support that missense mutation in the EBF2 c.215C > T (p.Ala72Val) is very likely to contribute to the pathogenesis of ARM in this family.

Keywords: anorectal malformations; imperforate anus; whole exome sequencing.

Publication types

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

MeSH terms

  • Anus, Imperforate / etiology
  • Anus, Imperforate / genetics*
  • Anus, Imperforate / pathology*
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • EBF2 protein, human