Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family

Autor: Michel Michaelides, Michalis Georgiou, Vanita Berry, Alexander Ionides, Roy A Quinlan

Publikováno v: BMJ Open Ophthalmology, Vol 8, Iss 1 (2023)

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD).Methods WES was performed for u

Externí odkaz: https://doaj.org/article/5c412eb6c2ba48cabf610a7a324f86ac

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

A recurrent variant in

Autor: Vanita, Berry, Kaoru, Fujinami, Kiyofumi, Mochizuki, Takeshi, Iwata, Nikolas, Pontikos, Roy A, Quinlan, Michel, Michaelides

Publikováno v: Ophthalmic genetics. 43(5)

Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible for congeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f407ff3d5dd880c6c12074d860a7f29b
https://pubmed.ncbi.nlm.nih.gov/35736209

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

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

Publikováno v: Eye (London, England). 36(8)

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.Using whole exome sequencing, we identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed2ef2f14ac70ce6476ec6f7197ed364
https://pubmed.ncbi.nlm.nih.gov/34345029

The genetic landscape of crystallins in congenital cataract

Autor: Louise Ocaka, Anthony T. Moore, Michalis Georgiou, Alex Ionides, Nikolas Pontikos, Michel Michaelides, Jing Yu, Vanita Berry, Roy A. Quinlan

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 2020, Vol.15, pp.333 [Peer Reviewed Journal]
Orphanet journal of rare diseases, vol 15, iss 1

Background The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystallin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c26187b6bc5474cf8b0af205d045032
https://pubmed.ncbi.nlm.nih.gov/33243271