Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

ConclusionWe 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.

We mapped autosomal recessive Hutterite‐type cataracts to chromosome 6p21.32‐p21.31. We identified a predicted damaging mutation in LEMD2 (c.T38G) that segregates with the phenotype in extended Hutterite kindreds (LOD = 9.62), suggesting that LEMD2 is the disease gene for this condition. Furthermore, we identified a novel association of Hutterite‐type cataracts with sudden cardiac death at a young age.

Source: Molecular Genetics & Genomic Medicine - November 1, 2015 Category: Genetics & Stem Cells Authors: Philip M. Boone, Bo Yuan, Shen Gu, Zhiwei Ma, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Mahim Jain, Todd J. Murdock, Janson J. White, Shalini N. Jhangiani, Kimberly Walker, Qiaoyan Wang, Donna M. Muzny, Richard A. Gibbs, J. Fielding Hejtmancik, James R. Tags: Original Article Source Type: research