The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Autor:	Ruth M, Liberfarb, Howard P, Levy, Peter S, Rose, Douglas J, Wilkin, Joie, Davis, Joan Z, Balog, Andrew J, Griffith, Yvonne M, Szymko-Bennett, Jennifer J, Johnston, Clair A, Francomano, Ekaterina, Tsilou, Benhamin I, Rubin
Rok vydání:	2003
Předmět:	Adult Male Adolescent Genotype Statistics as Topic Type II collagen Biology medicine.disease_cause Genotype phenotype Correlation medicine Humans Stickler syndrome Connective Tissue Diseases Collagen Type II Genetics (clinical) Genetics Mutation medicine.disease Phenotype Cohort Female Collagen
Zdroj:	Genetics in Medicine. 5:21-27
ISSN:	1098-3600
DOI:	10.1097/00125817-200301000-00004
Popis:	Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 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 COL2A1 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 COL2A1 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823310c5a4c34381aa8c99506fc4df1b https://doi.org/10.1097/00125817-200301000-00004 Zobrazit plný text záznamu