Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I [15]

Eye

Volumn 20, Issue 6, 2006, Pages 743-745

  Yoshida, S ^a   Yamaji, Y ^a   Kuwahara, R ^a   Yoshida, A ^a   Hisatomi, T ^a   Ueno, A ^a   Ishibashi, T ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

ADULT; CASE REPORT; CHOROID CAPILLARY LAYER; EYE REFRACTION; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPAN; LETTER; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OPHTHALMOSCOPY; RETINA DETACHMENT; RETINA DETACHMENT SURGERY; RETINA MACULA DEGENERATION; STICKLER SYNDROME; STOP CODON; VISUAL ACUITY; VITREOUS DISEASE;

EID: 33745065509     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/sj.eye.6702001     Document Type: Letter

References (6)

1. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999; 36: 353-359.
2. Parke DW. Stickler syndrome: Clinical care and molecular genetics. Am J Ophthalmol 2002; 134: 746-748.
3. Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS et al. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet 2000; 67: 1083-1094.
4. Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM et al. COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000; 84: 364-371.
5. Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad NN, Vrabec T et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. Am J Ophthalmol 2002; 134: 720-727.
6. Parma ES, Korkko J, Hagler WS, Ala-Kokko L. Radial perivascular retinal degeneration: A key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol 2002; 134: 728-734.