- Erratum in:
- Genet Med. 2003 Nov-Dec;5(6):478.
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Liberfarb RM,
Levy HP,
Rose PS,
Wilkin DJ,
Davis J,
Balog JZ,
Griffith AJ,
Szymko-Bennett YM,
Johnston JJ,
Francomano CA,
Tsilou E,
Rubin BI.
Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. METHODS: Review of medical records, clinical evaluations, and mutational analyses of clinically diagnosed Stickler patients. RESULTS: Patients with seven defined mutations had similar phenotypes, though both inter- and intrafamilial variability were apparent and extensive. The prevalence of certain clinical features was a function of age. CONCLUSION: Although the molecular determination of a mutation can predict the occurrence of Stickler syndrome, the variability observed in the families described here makes it difficult to predict the severity of the phenotype on the basis of genotype.
PMID: 12544472 [PubMed - indexed for MEDLINE]