Ontology highlight
ABSTRACT:
SUBMITTER: Berry V
PROVIDER: S-EPMC5898855 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Berry V V Pontikos N N Moore A A Ionides A C W ACW Plagnol V V Cheetham M E ME Michaelides M M
Eye (London, England) 20171215 4
PurposeInherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of ...[more]