The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
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.
Liberfarb
Ruth M
RM
Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Levy
Howard P
HP
Rose
Peter S
PS
Wilkin
Douglas J
DJ
Davis
Joie
J
Balog
Joan Z
JZ
Griffith
Andrew J
AJ
Szymko-Bennett
Yvonne M
YM
Johnston
Jennifer J
JJ
Francomano
Clair A
CA
Tsilou
Ekaterina
E
Rubin
Benhamin I
BI
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
C499177:COL2A1 protein, human; D024043:Collagen Type II; D003094:Collagen