COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.

ABSTRACT:

Aims

To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome.

Background

Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective tissue, resulting in an abnormal vitreous, myopia, and a variable degree of orofacial abnormality, deafness, and arthropathy. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment in childhood with a risk of giant retinal tear (GRT) which is commonly bilateral and a frequent cause of blindness.

Method

Pedigrees were identified from the vitreoretinal service database and subclassified according to vitreoretinal phenotype. Ophthalmic, skeletal,

SUBMITTER: Richards AJ 

PROVIDER: S-EPMC1723423 | biostudies-literature | 2000 Apr

REPOSITORIES: biostudies-literature