Document Detail

Genetic and clinical heterogeneity of Stickler syndrome.
MedLine Citation:
PMID:  1683158     Owner:  NLM     Status:  MEDLINE    
We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2A1 has been implicated as a gene which can give rise to Stickler syndrome based on evidence from 2 large families which each showed significant linkage between the disease locus and restriction fragment length polymorphisms for the gene (Francomano CA, Lieberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE (1987): Genomics 1:293-296; Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, Shamban A, Uitoo J, Jimenez SA, Prockop DJ (1989): Am J Hum Genet 45:681-688). We have found crossovers between the disease locus and COL2A1 in 2 families with Stickler syndrome. This could be explained by either genetic heterogeneity or the actual mutation being in a closely linked, currently unrecognized gene. We found a weakly positive overall lod score (z = 0.96 at theta = 0.10) suggesting that genetic heterogeneity is a more likely explanation. In one family, with typical findings, a translocation t5;17 (q15:q23) was found to segregate with the disease in 4 affected relatives. In view of the possible heterogeneity, although no crossovers with COL2A1 were seen in this family, either of these breakpoints could be the position of a further disease causing gene.
G M Vintiner; I K Temple; H R Middleton-Price; M Baraitser; S Malcolm
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  41     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Oct 
Date Detail:
Created Date:  1991-12-23     Completed Date:  1991-12-23     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  44-8     Citation Subset:  IM    
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, England.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Base Sequence
Chromosomes, Human, Pair 17*
Chromosomes, Human, Pair 5*
Collagen / genetics*
DNA Probes / genetics
Genetic Variation / genetics
Linkage (Genetics) / genetics
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*
Polymorphism, Restriction Fragment Length
Translocation, Genetic / genetics
Reg. No./Substance:
0/DNA Probes; 9007-34-5/Collagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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