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

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).

Source: The American Journal of Human Genetics - October 4, 2018 Category: Genetics & Stem Cells Authors: Muhammad Ansar, Hyung-lok Chung, Rachel L. Taylor, Aamir Nazir, Samina Imtiaz, Muhammad T. Sarwar, Alkistis Manousopoulou, Periklis Makrythanasis, Sondas Saeed, Emilie Falconnet, Michel Guipponi, Constantin J. Pournaras, Maqsood A. Ansari, Emmanuelle Ranz Tags: Article Source Type: research