RGD Reference Report - 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.

General

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.
Authors:	Narumi, Yoko Nishina, Sachiko Tokimitsu, Motoharu Aoki, Yoko Kosaki, Rika Wakui, Keiko Azuma, Noriyuki Murata, Toshinori Takada, Fumio Fukushima, Yoshimitsu Kosho, Tomoki
Citation:	Narumi Y, etal., Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24.
RGD ID:	13204738
Pubmed:	PMID:24664492 (View Abstract at PubMed)
DOI:	DOI:10.1002/ajmg.a.36433 (Journal Full-text)
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.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
cataract		IAGP		13204738	DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)	RGD
cataract		ISO	MAF (Homo sapiens)	13204738; 13204738	DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

Maf (MAF bZIP transcription factor)

Genes (Mus musculus)

Maf (MAF bZIP transcription factor)

Genes (Homo sapiens)

MAF (MAF bZIP transcription factor)

Additional Information

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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.