A -2 → G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler syndrome kindred

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 63, Issue 3, 1996, Pages 461-467

  Williams, C J ^a   Ganguly, A ^a   Considine, E ^a   McCarron, S ^a   Prockop, D J ^a   Walsh Vockley, C ^b   Michels, V V ^b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b MAYO CLINIC   (United States)

Author keywords

COL2A1 mutation; Splice site mutation; Stickler syndrome

Indexed keywords

COLLAGEN; MESSENGER RNA;

ADOLESCENT; AGED; ARTHROPATHY; ARTICLE; CASE REPORT; EYE DISEASE; FEMALE; GENETICS; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; MYOPIA; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETINA DETACHMENT; RNA SPLICING; STOP CODON; SYNDROME; ADULT; CLINICAL FEATURE; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STICKLER SYNDROME;

ADOLESCENT; AGED; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, TERMINATOR; COLLAGEN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EYE DISEASES; FEMALE; HUMANS; INFANT, NEWBORN; JOINT DISEASES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DETACHMENT; RNA SPLICING; RNA, MESSENGER; SYNDROME;

EID: 0029665141     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U     Document Type: Article

References (25)

1. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ (1991): Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 88:6624-6627.
2. Ahmad NN, McDonald-McGinn DM, Zakai EH, Knowlton RG, LaRossa D, Dimascio J, Prockop DJ (1993): A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 52:39-45.
3. Baldwin CT, Reginato AM, Smith C, Jimenez SA, Prockop DJ (1989). Structure of cDNA clones coding for human type II procollagen Biochem J 262:521-528.
4. Barnes WM, Bevan M, Son PH (19830: Kilo-sequencing. Creation of an ordered nest of asymmetric deletions across a large target sequence carried on phage M13. Methods Enzymol 101:98-122.
5. Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM (1992): Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 110:1589-1593.
6. Brown DM, Vandenburgh K, Nichols BE, Erhart AR, Kimura AE, Weingeist TA, Sheffield VC, Stone EM (1993): Genetic mutations at the C-terminal end of the procollagen II gene in Stickler syndrome (hereditary arthro-ophthalmopathy) and identification and phenotypic description of a new mutation. Am J Hum Genet 53:A1133.
7. Brunner HG, van Beersum SEC, Warman ML, Olsen BR, Ropers HH, Mariman ECM (1994): A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 3:1561-1564.
8. Chan D, Cole WG (1991): Low basal transcription of genes for tissuespecific eollagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in α1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 266:12487-12494.
9. Francomano CA, Rowan BG, Liberfarb RM, Hirose T, Maumenee IH, Stoll HU, Pyeritz RE (1988): The Stickler and Wagner syndromes: Evidence for genetic heterogeneity. Am J Hum Genet Suppl 43: A83.
10. Fryer AE, Upadhyaya M, Littler M, Bacon P, Watkins D, Tsipouras P, Harper PS (1990): Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 27:91-92.
11. Ganguly A, Rock MJ, Prockop DJ (1993): Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329.
12. Korkko J, Ritvamemi P, Haataja L, Kaariainen H, Kivirikko KI, Prockop DJ, Ala-Kokko L (1993): Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine α1-67 and that causes cataracts and retinal detachment. Evidence for molecular heterogeneity in the Wagner syndrome and in the Stickler syndrome (arthro-ophthalmopathy). Am J Hum Genet 53:55-61.
13. Kusukawa N, Vemori T, Asada K, Kato I (1990): Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction. Biotechniques 9:66-72.
14. Lerman LS, Silverstein K (1987): Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 155:482-501.
15. Prockop DJ, Kivirikko KI (1984): Heritable diseases of collagen. New Engl J Med 311:376-386.
16. Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, AlaKokko L (1993): A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome; Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 17:218-221.
17. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985): Enzymic application of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350-1354.
18. Sanger F, Nicklen S, Coulson AR (1977): DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467.
19. Spranger J, Winterpacht A, Zabel B (1994): The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153: 56-65.
20. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE (1965): Hereditary progressive arthro-ophthalmopathy. Mayo Clinic Proc 40:433-455.
21. Vikkula M, Metsaranta M, Ala-Kokko L (1994): Type II collagen mutations in rare and common cartilage diseases. Ann Med 26: 107-114.
22. Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FJH, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG (1995): Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80.431-437.
23. Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, AlaKokko L, Korn RM, Buxton PG, Dimascio J, Considine EL, Prockop DJ (1992): Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA. Hum Mutation 1:403-416.
24. Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels V, Murphy W, Prockop DJ, Ganguly A (1995): Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the, COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. Hum Molec Genet 4:309-312.
25. Winterpacht A, Hilbert M, Schwarza U, Mundlos S, Spranger J, Zabel BU (1993): Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genet 3:323-326.