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A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations
Author(s) -
Kim Shinn Young,
Ko HyunSun,
Kim Namshin,
Yim SeonHee,
Jung SeungHyun,
Kim Jiwoong,
Lee MyungDuk,
Chung YeunJun
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38722
Subject(s) - imperforate anus , missense mutation , genetics , biology , phenotype , mutation , exome sequencing , gene
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.