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

Shinn Young KimHyun-Sun KoNamshin KimSeon-Hee YimSeung-Hyun JungJiwoong KimMyung-Duk LeeYeun-Jung Chung
Published in: American journal of medical genetics. Part A (2018)
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.
Keyphrases
  • intellectual disability
  • genome wide
  • copy number
  • autism spectrum disorder
  • dna methylation