Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts

Autor: Michel Michaelides, Angelos Kalitzeos, Nikolas Pontikos, Roy A. Quinlan, Vanita Berry, Alex Ionides

Publikováno v: Ophthalmic Genetics, 2022, Vol.43(2), pp.218-223 [Peer Reviewed Journal]

Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene, CYP21A2, causing autosomal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03929d39c7b3706dc55a45e5412c8bb
https://doi.org/10.1080/13816810.2021.1998556

Pathogenic variants in the

Autor: Vanita, Berry, Nikolas, Pontikos, Alex, Ionides, Angelos, Kalitzeos, Roy A, Quinlan, Michel, Michaelides

Publikováno v: Ophthalmic genetics. 43(2)

Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene,Using whole-exome sequencing (WES), we ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c1cb77bcfa87c7dac337efb8b4952414
https://pubmed.ncbi.nlm.nih.gov/34748434

Variants in PAX6, PITX3 and HSF4 Causing Autosomal Dominant Congenital Cataract

Autor: Vanita Berry, Alex Ionides, Nikolas Pontikos, Anthony T Moore, Roy A Quinlan, Michel Michaelides

Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.Methods: Using whole exome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b3b070f54db510e53d57f7de470e6ed3
https://doi.org/10.21203/rs.3.rs-367664/v1

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Autor: Roy A. Quinlan, Nikolas Pontikos, Ismail Moghul, Michel Michaelides, Alex Ionides, Anthony T. Moore, Vanita Berry

Publikováno v: Genes, vol 11, iss 5
Genes, Vol 11, Iss 512, p 512 (2020)
Genes
Volume 11
Issue 5
Genes, 2020, Vol.11(5), pp.512 [Peer Reviewed Journal]

Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with auto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b90c35afc76ba2b6fe0b782bd9d1b0f
https://escholarship.org/uc/item/3677x9xm

Visual outcome in patients with isolated autosomal dominant congenital cataract11None of the authors have any proprietary interest in this work

Autor: Shomi S. Bhattacharya, Anthony T. Moore, Vanita Berry, Peter J. Francis, Alex Ionides

Publikováno v: Ophthalmology. 108:1104-1108

Objective To determine the visual outcome and surgical complication rates of patients with isolated inherited congenital cataract. Design Retrospective noncomparative case series. Participants Patients and their families were ascertained from the gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cbdfcd3010bff2e45186b66437f6f01e
https://doi.org/10.1016/s0161-6420(01)00586-3