Journal article
Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group
Nature genetics, Vol.10(2), pp.246-248
06/01/1995
DOI: 10.1038/ng0695-246
PMID: 7663525
Abstract
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes. 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 age. 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 involvement. Treatment with the cysteine-depleting agent, cysteamine (Cystagon), or phosphocysteamine, has proven successful in retarding glomerular deterioration and enhancing growth. 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, theta = 0.03) for marker D17S1584. Multipoint analysis and haplotypes in recombinant families suggest that the gene is located between markers D17S1583 and D17S796.
Details
- Title: Subtitle
- Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group
- Creators
- F Piccolo - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesS.L Roberds - HHMI and Department of Physiology and Biophysics, University of Iowa College of MedicineM Jeanpierre - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesF Leturcq - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesK Azibi - Hôpital Bologhine and CHU Alger-OuestC Beldjord - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesA Carrié - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesD Récan - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René DescartesM Chaouch - Hôpital Ben-Aknoun, CHU Alger-OuestA Reghis - CHU MustaphaF El Kerch - Institut National d’HygièneA Sefiani - Institut National d’HygièneT Voit - Universitäts-KinderklinikL Merlini - Istituto Ortopedico RizzoliH Collin - INSERM 153B Eymard - INSERM 153J.S Beckmann - CEPHN.B Romero - Hôspital Robert DebréF.M.S Tomé - INSERM 153M Fardeau - INSERM 153K.P Campbell - HHMI and Department of Physiology and Biophysics, University of Iowa College of MedicineJ.-C Kaplan - Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René Descartes
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.10(2), pp.246-248
- DOI
- 10.1038/ng0695-246
- PMID
- 7663525
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 06/01/1995
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068383302771
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