title: The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Ruth M
authors.initials: RM
authors.lastname: Liberfarb
authors.forename: Howard P
authors.initials: HP
authors.lastname: Levy
authors.forename: Peter S
authors.initials: PS
authors.lastname: Rose
authors.forename: Douglas J
authors.initials: DJ
authors.lastname: Wilkin
authors.forename: Joie
authors.initials: J
authors.lastname: Davis
authors.forename: Joan Z
authors.initials: JZ
authors.lastname: Balog
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Yvonne M
authors.initials: YM
authors.lastname: Szymko-Bennett
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Johnston
authors.forename: Clair A
authors.initials: CA
authors.lastname: Francomano
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Tsilou
authors.forename: Benhamin I
authors.initials: BI
authors.lastname: Rubin
mesh_terms: D000293:Adolescent; D000328:Adult; D003094:Collagen / Q000235:genetics; D024043:Collagen Type II / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D013223:Statistics as Topic
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D003094:Collagen