Identification and functional analysis of a novel oculocerebrorenal syndrome of lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract
Identification and functional analysis of a novel oculocerebrorenal syndrome of lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract
Purpose: to identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.
Methods: clinical examination and phenotyping, segregation and functional analysis were performed for the two studied pedigrees.
Results: a novel OCRL gene variant (c.1964A>T, p. (Asp655Val)) was identified. This variant causes defects in OCRL protein folding and mislocalisation to the cytoplasm. In addition, the variant’s location close to the Rab binding site is likely to be associated with membrane targeting abnormalities.
Conclusion: The results highlight the importance of early genetic diagnosis in infants with congenital cataract and show that mutations in the OCRL gene can present as apparently isolated congenital cataract.
847-852
Shalaby, Ahmed K.
ebe1258b-1a7e-420d-91d7-d15d7c69bafb
Emery-Billcliff, Peter
91ee91ec-e9e4-4b9e-92f6-839383eea428
Baralle, Diana
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Dabir, Tabib
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Begum, Shahiba
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Waller, Sarah
2e239099-c4d4-4646-8aa6-349d15147a42
Tabernero, Lydia
e751cea0-5e91-4ed5-a60b-d6a5becf5b3f
Lowe, Martin
9a9dfb7a-8e2b-46ce-b649-4d0bfdae1ceb
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
31 December 2018
Shalaby, Ahmed K.
ebe1258b-1a7e-420d-91d7-d15d7c69bafb
Emery-Billcliff, Peter
91ee91ec-e9e4-4b9e-92f6-839383eea428
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Dabir, Tabib
2caf95fa-8a52-46ea-8b17-1f6a548d6525
Begum, Shahiba
8a8a27cb-7f76-4ff6-9cb0-9b332c1f804e
Waller, Sarah
2e239099-c4d4-4646-8aa6-349d15147a42
Tabernero, Lydia
e751cea0-5e91-4ed5-a60b-d6a5becf5b3f
Lowe, Martin
9a9dfb7a-8e2b-46ce-b649-4d0bfdae1ceb
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Shalaby, Ahmed K., Emery-Billcliff, Peter, Baralle, Diana, Dabir, Tabib, Begum, Shahiba, Waller, Sarah, Tabernero, Lydia, Lowe, Martin and Self, James
(2018)
Identification and functional analysis of a novel oculocerebrorenal syndrome of lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Molecular Vision, 24, .
Abstract
Purpose: to identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.
Methods: clinical examination and phenotyping, segregation and functional analysis were performed for the two studied pedigrees.
Results: a novel OCRL gene variant (c.1964A>T, p. (Asp655Val)) was identified. This variant causes defects in OCRL protein folding and mislocalisation to the cytoplasm. In addition, the variant’s location close to the Rab binding site is likely to be associated with membrane targeting abnormalities.
Conclusion: The results highlight the importance of early genetic diagnosis in infants with congenital cataract and show that mutations in the OCRL gene can present as apparently isolated congenital cataract.
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Accepted/In Press date: 29 December 2018
e-pub ahead of print date: 31 December 2018
Published date: 31 December 2018
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Local EPrints ID: 426458
URI: http://eprints.soton.ac.uk/id/eprint/426458
PURE UUID: 7eb3b6f6-956b-403b-9bc7-d9733263181b
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Date deposited: 28 Nov 2018 17:30
Last modified: 16 Mar 2024 03:57
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Author:
Ahmed K. Shalaby
Author:
Peter Emery-Billcliff
Author:
Tabib Dabir
Author:
Shahiba Begum
Author:
Sarah Waller
Author:
Lydia Tabernero
Author:
Martin Lowe
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