Unknown

Dataset Information

0

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.

ABSTRACT: Mutations in the retinol dehydrogenase 12 (RDH12) 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?24)], resulting in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant RP. Both heterozygous variants are associated with a late onset RP phenotype, suggesting a possible genotype-phenotype correlation.

SUBMITTER: Sarkar H 

PROVIDER: S-EPMC7156618 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (<i>RDH12</i>) Causes Familial Autosomal Dominant Retinitis Pigmentosa.

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]

Similar Datasets

Unknown SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC4602186 | biostudies-literature
Unknown SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC7859630 | biostudies-literature
Unknown Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC7545001 | biostudies-literature
Unknown Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC8478325 | biostudies-literature
Unknown Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding.
| S-EPMC1184561 | biostudies-literature
Unknown Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
| S-EPMC2585827 | biostudies-literature
Unknown Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
| S-EPMC5122955 | biostudies-literature
Unknown Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
| S-EPMC8363920 | biostudies-literature
Unknown Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
| S-EPMC2585828 | biostudies-literature
Unknown A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
| S-EPMC4224578 | biostudies-literature