title: A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
abstract: Genetic linkage analyses suggest that mutations in type II collagen may be responsible for Stickler syndrome, or arthro-ophthalmopathy (AO), in many families. In the present study oligonucleotide primers were developed to amplify and directly sequence eight of the first nine exons of the gene for type II procollagen (COL2A1). Analysis of the eight exons in 10 unrelated probands with AO revealed that one had a single-base mutation in one allele that changed the codon of -CGA- for arginine at amino acid position alpha 1-9 in exon 7 to a premature termination signal for translation. The second mutation found to cause AO was, therefore, similar to the first in that both created premature termination signals in the COL2A1 gene. Since mutations producing premature termination signals have not previously been detected in genes for fibrillar collagens, the results raise the possibility that such mutations in the COL2A1 gene are a common cause of AO.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jefferson Medical College, Philadelphia, PA 19107.
authors.forename: N N
authors.initials: NN
authors.lastname: Ahmad
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
authors.forename: D
authors.initials: D
authors.lastname: LaRossa
authors.forename: J
authors.initials: J
authors.lastname: DiMascio
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D003240:Connective Tissue Diseases / Q000235:genetics*; D004277:DNA, Single-Stranded; D005091:Exons; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011347:Procollagen / Q000235:genetics*; D013577:Syndrome; D013728:Terminator Regions, Genetic
chemical_list: D003062:Codon; D004277:DNA, Single-Stranded; D011347:Procollagen