Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
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 proalpha1(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.
Richards
A J
AJ
Department of Pathology, University of Cambridge, Cambridge, UK. arichard@hgmp.mrc.ac.uk
Morgan
J
J
Bearcroft
P W P
PW
Pickering
E
E
Owen
M J
MJ
Holmans
P
P
Williams
N
N
Tysoe
C
C
Pope
F M
FM
Snead
M P
MP
Hughes
H
H
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002806:Chondrodysplasia Punctata; D024043:Collagen Type II / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics* / Q000473:pathology
D024043:Collagen Type II; D004247:DNA