Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Richards, A. J., Morgan, J., Bearcroft, P. W. P., Pickering, E., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Tysoe, C., Pope, F. M., Snaed, M. P. and Hughes, H. 2002. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. Journal of Medical Genetics 39 (9) , pp. 661-665. 10.1136/jmg.39.9.661

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Abstract

A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proα1(II) collagen. Mutational analysis of the gene by exon sequencing identified a novel mutation in the C-propeptide region of the molecule. The glycine to aspartic acid change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype does not fit easily into pre-existing subgroups of the type II collagenopathies, which includes spondyloepiphyseal dysplasia, and the Kniest, Strudwick, and Stickler dysplasias.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ
ISSN:	1468-6244
Last Modified:	17 Oct 2023 11:26
URI:	https://orca.cardiff.ac.uk/id/eprint/82976

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