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

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. W...

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Autores principales: Sarkar, Hajrah, Dubis, Adam M., Downes, Susan, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156618/
https://www.ncbi.nlm.nih.gov/pubmed/32322264
http://dx.doi.org/10.3389/fgene.2020.00335
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author Sarkar, Hajrah
Dubis, Adam M.
Downes, Susan
Moosajee, Mariya
author_facet Sarkar, Hajrah
Dubis, Adam M.
Downes, Susan
Moosajee, Mariya
author_sort Sarkar, Hajrah
collection PubMed
description 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.
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spelling pubmed-71566182020-04-22 Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa Sarkar, Hajrah Dubis, Adam M. Downes, Susan Moosajee, Mariya Front Genet Genetics 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. Frontiers Media S.A. 2020-04-08 /pmc/articles/PMC7156618/ /pubmed/32322264 http://dx.doi.org/10.3389/fgene.2020.00335 Text en Copyright © 2020 Sarkar, Dubis, Downes and Moosajee. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Sarkar, Hajrah
Dubis, Adam M.
Downes, Susan
Moosajee, Mariya
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title_full Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title_fullStr Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title_full_unstemmed Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title_short Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
title_sort novel heterozygous deletion in retinol dehydrogenase 12 (rdh12) causes familial autosomal dominant retinitis pigmentosa
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156618/
https://www.ncbi.nlm.nih.gov/pubmed/32322264
http://dx.doi.org/10.3389/fgene.2020.00335
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