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Article

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.

American journal of medical genetics. Part A - 1 May 2014

Narumi Yoko, Nishina Sachiko, Tokimitsu Motoharu, Aoki Yoko, Kosaki Rika, Wakui Keiko, Azuma Noriyuki, Murata Toshinori, Takada Fumio, Fukushima Yoshimitsu, Kosho Tomoki

Abstract excerpt

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...

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Source

Identifiers

PMID: 24664492
DOI: 10.1002/ajmg.a.36433

Genes

MAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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