Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

ABSTRACT: Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We identified three consanguineous families affected by bilateral infantile cataracts. Using exome sequencing, we found homozygous loss-of-function variants in DNMBP: nonsense variant c.811C>T (p.Arg271^∗) in large family F385 (nine affected individuals; LOD score = 5.18 at θ = 0), frameshift deletion c.2947_2948del (p.Asp983^∗) in family F372 (two affected individuals), and frameshift variant c.2852_2855del (p.Thr951Metfs^∗41) in family F3 (one affected individual). The phenotypes of all affected individuals include infan

SUBMITTER: Ansar M 

PROVIDER: S-EPMC6174361 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature