Congenital cataracts in Chinese families, authors suggest incomplete penetrance in family. Variant MAF 0.001. Funtional involvement suggested by Prx-/- mice had softer and more easily deformed lenses, revealing disruptions in fiber cell hexagonal packing, membrane skeleton and membrane stability (from PMID 27081207)
Created: 4 May 2017, 11:45 a.m.
Heterozygous variant, c.3673G > A (p.V1225M), in the periaxin gene (PRX) identified in three patients and two asymptomatic individuals of the family. The variant was absent in the other three unaffected family members and in 3290 ethnically matched in-house controls from BGI-Shenzhen.
Created: 4 May 2017, 11:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRX was added to Cataractspanel. Sources: Literature
PRX was created by sleigh