Ontology highlight
ABSTRACT:
SUBMITTER: Sarkar H
PROVIDER: S-EPMC7156618 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Sarkar Hajrah H Dubis Adam M AM Downes Susan S Moosajee Mariya M
Frontiers in genetics 20200408
Mutations in the retinol dehydrogenase 12 (<i>RDH12</i>) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. Only one family with a heterozygous variant, associated with mild retinitis pigmentosa (RP), has been reported. We report a novel heterozygous variant [(c.759del; p.(Phe254Leufs<sup>∗</sup>24)], resulting in a frameshift and premature termination identified in two unrelated individuals with familial autos ...[more]