Stickler syndrome and vitreoretinal degeneration: Correlation between locus mutation and vitreous phenotype. Apropos of a case

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 239, Issue 4, 2001, Pages 316-319

  Parentin, Fulvio ^a   Sangalli, Antonella ^b   Mottes, Monica ^b   Perissutti, Paolo ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; COLLAGEN TYPE 11; COLLAGEN TYPE 11A1; COLLAGEN TYPE 2; COLLAGEN TYPE 2A1; GENE PRODUCT; UNCLASSIFIED DRUG; WGN 1 PROTEIN;

ALPHA CHAIN; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION FUNCTION; FACE MALFORMATION; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC HETEROGENEITY; HUMAN; ITALY; MALE; MYOPIA; OSTEOARTHRITIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; SEGREGATION ANALYSIS; SHORT NOSE; SPONDYLOEPIPHYSEAL DYSPLASIA; STICKLER SYNDROME; SYNDROME; VITREORETINAL DEGENERATION; VITREOUS BODY; VITREOUS DISEASE; WAGNER DISEASE;

CHILD; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; COLLAGEN; CONNECTIVE TISSUE DISEASES; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; HUMANS; MALE; MUTATION; MYOPIA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; SYNDROME; VITREOUS BODY;

EID: 0034981607     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004170100286     Document Type: Article

References (11)

1. Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
2. Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity
3. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3
4. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
5. 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
6. COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes
7. Clinical and molecular genetics of Stickler syndrome
8. Stickler syndrome: Correlations between vitreoretinal phenotypes and linkage to COL1A2
9. Masked confirmation of linkage between type 1 congenital vitreous anomaly COL2A1 in Stickler syndrome
10. Hereditary progressive arthro-ophthalmopathy
11. Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich