Bilateral congenital or childhood onset cataracts

Gene: LEMD2

I don't know

PMID:2678853 reported the identification of the homozygous missense LEMD2 variant (p.Thr38Gly) in 17 members of four unrelated Lehrerleut Hutterite kindreds with juvenile cataract. The age of cataract presentation was mostly between 3 and 7 years with the exception of an individual presenting at the age of 26 years. In two of the pedigrees, seven individuals died of sudden, apparently arrhythmogenic events in the third through fifth decades; six of those patients also had juvenile-onset cataracts.

PMID:31061923 reported 19 members from two extended Hutterite kindreds that had juvenile cataract with or without arrhythmic cardiomyopathy. One of these kindreds were reported previously in PMID:2678853. A homozygous p.Leu13Arg variant was identified in the other kindred that was not previously reported in literature. The homozygous variant was also identified in one apparently unaffected carrier, a 13-year-old girl without cataract who was believed to be presymptomatic.
Sources: Literature

Created: 23 Jul 2024, 3:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 46, juvenile-onset, OMIM:212500

Publications

• 26788539
• 31061923