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Title 

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

Authors 

S Y KimH S KoNamshin KimS H YimS H JungJ KimM D LeeY J Chung

Publisher 

Wiley

Issue Date 

2018

Citation 

American Journal of Medical Genetics Part A

Keywords 

anorectal malformationsimperforate anuswhole exome sequencing

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.

ISSN 

1552-4825

Link 

http://dx.doi.org/10.1002/ajmg.a.38722

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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