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Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature
Author(s) -
Narumi Yoko,
Nishina Sachiko,
Tokimitsu Motoharu,
Aoki Yoko,
Kosaki Rika,
Wakui Keiko,
Azuma Noriyuki,
Murata Toshinori,
Takada Fumio,
Fukushima Yoshimitsu,
Kosho Tomoki
Publication year - 2014
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.36433
Subject(s) - missense mutation , cataracts , genetics , exome sequencing , biology , exome , coloboma , dysgenesis , genetic heterogeneity , mutation , eye development , transcription factor , phenotype , gene
Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V‐maf avian musculoaponeurotic fibrosarcoma oncogene homolog ( MAF ) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile‐onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA‐binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease‐causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.