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PMID: 1483700 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Alport syndrome: a genetic study of 31 families.

Human genetics ·Vol. 90 ·No. 4 ·1992-12-00 ·Pages 420-6

M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler MC, Broyer M, Grunfeld JP

Abstract

Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and one single base mutation of the COL4A5 gene were detected. Homogeneity tests failed to show any evidence of genetic heterogeneity superimposed on clinical heterogeneity for ophthalmic signs and end-stage renal disease age.

Related Genes
AS COL4A5
MeSH Terms
Adolescent Adult Animals Collagen/genetics Cricetinae Female Gene Deletion Genetic Linkage Humans Hybrid Cells Male Nephritis, Hereditary/genetics,physiopathology Pedigree Point Mutation X Chromosome
Chemicals
Collagen
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
M'Rad R
INSERM U12, Hôpital Necker-Enfants Malades, Paris, France.
Sanak M
Deschenes G
Zhou J
Bonaiti-Pellie C
Holvoet-Vermaut L
Heuertz S
Gubler M C
Broyer M
Grunfeld J P
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00220471
Published
1992-12-00
Pages
420-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00220471 View journal details
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