Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Philip M BooneBo YuanShen GuZhiwei MaTomasz GambinClaudia Gonzaga-JaureguiMahim JainTodd J MurdockJanson J WhiteShalini N JhangianiKimberly WalkerQiaoyan WangDonna M MuznyRichard A GibbsJ Fielding HejtmancikJames R LupskiJennifer E PoseyRichard A LewisPublished in: Molecular genetics & genomic medicine (2015)
We performed a genetic and genomic study of Hutterite-type cataract and found evidence for an association of this phenotype with sudden cardiac death. Using combined genetic and genomic approaches, we mapped cataracts to a small portion of chromosome 6 and propose that they result from a homozygous missense mutation in LEMD2.