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An OTX2 gene mutation causing a more severe retinal phenotype in a female RPGR mutation carrier

An OTX2 gene mutation causing a more severe retinal phenotype in a female RPGR mutation carrier
An OTX2 gene mutation causing a more severe retinal phenotype in a female RPGR mutation carrier
This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a typical manifesting phenotype and three heterozygous women demonstrate a typical carrier phenotype. A fourth heterozygous woman is described with a strikingly severe retinal phenotype and also harbors an independent disease-causing mutation in the OTX2 gene and an associated systemic phenotype. This study hypothesizes that the OTX2 mutation in combination with the familial retinitis pigmentosa GTPase regulator gene variant results in a more severe ocular phenotype than is seen in the other heterozygous women in this pedigree due to a loss of OTX2-mediated photoreceptor protection. [Ophthalmic Surg Lasers Imaging Retina. 2022;53(4):216-220.].
Electroretinography, Eye Proteins/genetics, Female, GTP Phosphohydrolases/genetics, Humans, Male, Mutation, Otx Transcription Factors/genetics, Pedigree, Phenotype, Retinitis Pigmentosa/diagnosis
216-220
Bhat, Leena
5353a181-7418-4fd9-831f-3e995e119d1e
De Salvo, Gabriella
a747876b-c03d-4655-b31c-735e0f2920d2
Akyol, Engin
730cb803-2618-435e-a361-977f9a5c9780
Self, James E.
0f6efc58-ae24-4667-b8d6-6fafa849e389
Meduri, Alessandro
74588c96-b0e6-4b35-ba0a-2f16f21cefff
Bhat, Leena
5353a181-7418-4fd9-831f-3e995e119d1e
De Salvo, Gabriella
a747876b-c03d-4655-b31c-735e0f2920d2
Akyol, Engin
730cb803-2618-435e-a361-977f9a5c9780
Self, James E.
0f6efc58-ae24-4667-b8d6-6fafa849e389
Meduri, Alessandro
74588c96-b0e6-4b35-ba0a-2f16f21cefff

Bhat, Leena, De Salvo, Gabriella, Akyol, Engin, Self, James E. and Meduri, Alessandro (2022) An OTX2 gene mutation causing a more severe retinal phenotype in a female RPGR mutation carrier. Ophthalmic surgery, lasers & imaging retina, 53 (4), 216-220. (doi:10.3928/23258160-20220311-01).

Record type: Article

Abstract

This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a typical manifesting phenotype and three heterozygous women demonstrate a typical carrier phenotype. A fourth heterozygous woman is described with a strikingly severe retinal phenotype and also harbors an independent disease-causing mutation in the OTX2 gene and an associated systemic phenotype. This study hypothesizes that the OTX2 mutation in combination with the familial retinitis pigmentosa GTPase regulator gene variant results in a more severe ocular phenotype than is seen in the other heterozygous women in this pedigree due to a loss of OTX2-mediated photoreceptor protection. [Ophthalmic Surg Lasers Imaging Retina. 2022;53(4):216-220.].

Text
RPGR_OTX2_30_Nov_2021 - Accepted Manuscript
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e-pub ahead of print date: 1 April 2022
Published date: 1 April 2022
Keywords: Electroretinography, Eye Proteins/genetics, Female, GTP Phosphohydrolases/genetics, Humans, Male, Mutation, Otx Transcription Factors/genetics, Pedigree, Phenotype, Retinitis Pigmentosa/diagnosis

Identifiers

Local EPrints ID: 467391
URI: http://eprints.soton.ac.uk/id/eprint/467391
PURE UUID: efd57ab2-a0e5-4ab2-ba9f-003f53a36b38
ORCID for James E. Self: ORCID iD orcid.org/0000-0002-1030-9963

Catalogue record

Date deposited: 07 Jul 2022 17:17
Last modified: 13 Jul 2022 01:40

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Contributors

Author: Leena Bhat
Author: Gabriella De Salvo
Author: Engin Akyol
Author: James E. Self ORCID iD
Author: Alessandro Meduri

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