PT  - JOURNAL ARTICLE
AU  - A J Richards
AU  - J Morgan
AU  - P W P Bearcroft
AU  - E Pickering
AU  - M J Owen
AU  - P Holmans
AU  - N Williams
AU  - C Tysoe
AU  - F M Pope
AU  - M P Snead
AU  - H Hughes
TI  - Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule
AID  - 10.1136/jmg.39.9.661
DP  - 2002 Sep 01
TA  - Journal of Medical Genetics
PG  - 661--665
VI  - 39
IP  - 9
4099  - http://jmg.bmj.com/content/39/9/661.short
4100  - http://jmg.bmj.com/content/39/9/661.full
SO  - J Med Genet2002 Sep 01; 39
AB  - 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.