Ontology highlight
ABSTRACT:
SUBMITTER: Evers C
PROVIDER: S-EPMC4795213 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Evers Christina C Paramasivam Nagarajan N Hinderhofer Katrin K Fischer Christine C Granzow Martin M Schmidt-Bacher Annette A Eils Roland R Steinbeisser Herbert H Schlesner Matthias M Moog Ute U
European journal of human genetics : EJHG 20150325 12
Congenital cataract (CC) is one of the most important causes for blindness or visual impairment in infancy. A substantial proportion of isolated CCs has monogenic causes. The disease is genetically heterogeneous, and all Mendelian modes of inheritance have been reported. We mapped a locus for isolated CC on 19p13.1-q13.2 in a distantly consanguineous German family with two sisters affected by dense white cataracts. Whole-exome sequencing identified a homozygous nonsense variant c.4489C>T (p.(R14 ...[more]