A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.
Am J Med Genet A
; 176(7): 1632-1636, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29704291
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
/
Mutação de Sentido Incorreto
/
Fatores de Transcrição Hélice-Alça-Hélice Básicos
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article