Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation termination. Since the phenotype in this family is not different from cases with a truncated alpha-chain, our finding supports the suggestion that a dosage effect is underlying Stickler syndrome. Moreover, in mutation screening protocols for COL2A1 one should be aware of the possibility of large deletions, which are not detected by generally used PCR-based methods.
Department of Clinical Genetics, University Hospital, Groningen, The Netherlands.
Annemarie H
AH
Van Der Hout
Edwin
E
Verlind
Frits A
FA
Beemer
Charles H C M
CH
Buys
Robert M W
RM
Hofstra
Hans
H
Scheffer
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D024043:Collagen Type II / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000473:pathology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000473:pathology*; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D010375:Pedigree; D013577:Syndrome
D024043:Collagen Type II; D004247:DNA