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A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.
작성자
pmrc
작성일
2019-03-21 15:35
조회
307
Kim, S. Y., Ko, H. S., Kim, N., Yim, S. H., Jung, S. H., Kim, J., ... & Chung, Y. J. (2018). A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations. American Journal of Medical Genetics Part A, 176(7), 1632-1636.
DOI: 10.1002/ajmg.a.38722
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 imperforateanus 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.
DOI: 10.1002/ajmg.a.38722
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 imperforateanus 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.