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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Linkage of the gene for cystinosis to markers on the short arm of chromosome 17
Nature Genetics, Volume 10, No. 2, Year 1995
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Description
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes1. Cystine storage leads to acidosis, dehydration, rickets and growth retardation in the first year of life, followed by renal glomerular failure at approximately ten years of age2. Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal blindness, a distal vacuolar myopathy, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement2, 3. Treatment with the cystine-depleting agent, cysteamine (CystagonR), or phosphocysteamine, has proven successful in retarding glomerular deterioration and enhancing growth4, 5. Although cystinosis represents the prototypic disorder of lysosomal membrane transport, neither the cystinosis gene nor the lysosomal cystine carrier has been isolated. We now report linkage of the cystinosis gene to markers on the short arm of chromosome 17 (Zmax=10.89, θ=0.03) for marker D17S1584. Multipoint analysis and haplotypes in recombinant families suggest that the gene is located between markers D17S1583 and D17S796. © 1995 Nature Publishing Group.
Authors & Co-Authors
Piccolo, F.
France, Paris
Inserm
Roberds, S. L.
United States, Iowa City
University of Iowa Carver College of Medicine
Jeanpierre, M.
France, Paris
Inserm
Leturcq, France
France, Paris
Inserm
Azibi, Kemal
Algeria, Algiers
Hôpital de Bologhine
Beldjord, Chérif
France, Paris
Inserm
Carrié, Alain
France, Paris
Inserm
Récan, D.
France, Paris
Inserm
Chaouch, Malika
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Reghis, Abderrezak
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
El-Kerch, Fatiha
Morocco, Agdal Rabat
Institut National D'hygiène
Sefiani, Abdelaziz
Morocco, Agdal Rabat
Institut National D'hygiène
Voit, Thomas
Germany, Essen
Universitätsklinikum Essen
Merlini, Luciano
Italy, Bologna
Irccs Rizzoli Orthopaedic Institute, Bologna
Collin, Huguette
France, Paris
Inserm
Eymard, Bruno
France, Paris
Inserm
Beckmann, Jacques S.
France, Evry
Généthon
Roméro, Norma Beatriz
France, Paris
Hôpital Robert-debré Ap-hp
Tomé, Fernando M.S.
France, Paris
Inserm
Fardeau, Michael
France, Paris
Inserm
Campbell, Kevin P.
United States, Iowa City
University of Iowa Carver College of Medicine
Kaplan, Jean Claude
France, Paris
Inserm
Statistics
Citations: 22
Authors: 22
Affiliations: 10
Identifiers
Doi:
10.1038/ng0695-246
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Health System And Policy