AUTHOR=Lin Zhao-Jing , Long Jie-Yi , Li Juan , Wang Fang-Na , Chu Wei , Zhu Lei , Li Ya-Li , Fan Liang-Liang 

TITLE=Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts

JOURNAL=Frontiers in Medicine

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1332992

DOI=10.3389/fmed.2024.1332992

ISSN=2296-858X

ABSTRACT=Background: Congenital cataract stands as the primary cause of childhood blindness globally, characterized by clouding of the eye's lens at birth or shortly thereafter.investigations have unveiled that variant in the V-maf avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Aymegripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years. Methods: In this investigation, we recruited a Chinese family with non-syndromic cataract. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family. Results: Through whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets. Conclusions: Hence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataract. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients.