Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2 (XI) chain of type XI collagen

Journal of Pediatrics

Volumn 132, Issue 2, 1998, Pages 368-371

  Sirko Osadsa, D A ^a   Murray, M A ^a   Scott, J A ^a   Lavery, M A ^a   Warman, M L ^a   Robin, N H ^a  

^a Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN TYPE 11; DNA;

ARTICLE; BASE PAIRING; GENE; GENE DELETION; GENE MUTATION; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STICKLER SYNDROME;

EID: 0031890446     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70466-4     Document Type: Article

References (10)

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2. RJ. Shprintzen Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis Int Anaesthesiol Clin 26 1988 64 71
3. IK. Temple Stickler's syndrome J Med Genet 26 1989 119 126
4. J Spranger A Winterpacht B. Zabel The type II collagenopathies: a spectrum of chondrodysplasias Eur J Pediatr 153 1994 56 65
5. M Vikkula ECM Mariman VCH Lui Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Cell 80 1995 431 437
6. AJ Richards JRW Yates R Williams A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen Hum Mol Genet 5 1996 1339 1343
7. HG Brunner SEC van Beersum ML Warman BR Olsen H-H Ropers ECM. Mariman A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene Hum Mol Genet 3 1994 1561 1564
8. MM Vuristo T Pihlajamaa P Vandenberg DJ Prockop L. Ala-Kokko The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens J Biol Chem 270 1995 22873 22881
9. DA Sirko-Osadsa J Zlotogora GE Tiller RG Knowlton ML. Warman A third Stickler syndrome locus is linked to COL11A1, the gene encoding the α1 subunit of collagen XI [abstract] Am J Hum Genet 59 suppl 1996 A17
10. MP Snead SJ Payne DE Barton Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL2A1 Eye 8 1994 609 614