Ontology highlight
ABSTRACT:
SUBMITTER: Shinwari JM
PROVIDER: S-EPMC4289688 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
American journal of human genetics 20141211 1
Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal development have been associated with different CCDD phenotypes. By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 (COL25A1) in individuals with autosomal-recessive inheritance of CCDD ophthalmic phenotypes. These mutations affected either stability or levels of th ...[more]