Description:
CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
SLC7A9 |
| Chromosomal Location |
19q13.1 |
| Allelic Variant 1 |
T389M; NON-TYPE 1 CYSTINURIA |
| Identified Mutation |
THR389MET |
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| Gene |
SLC7A9 |
| Chromosomal Location |
19q13.1 |
| Allelic Variant 2 |
splicing site mutation; NON-TYPE 1 CYSTINURIA |
| Identified Mutation |
789+2T>C |
| Remarks |
Clinically affected; recurrent nephrolithiasis beginning in childhood; urine cystine levels markedly elevated (4593 micromol/24 hours); patient underwent uninephrectomy at age 15 because of severe nephrolithiasis; no family history; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1352 which converts the thr-389 codon in exon 11 of the SLC7A9 gene to a methionine [THR389MET (T389M)]; the other allele contains a splice site mutation (789+2 T-C). |
| Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernandez E, Zorzano A, Bertran J, Palacin M; International Cystinuria Consortium, Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet10(4):305-16 2001 |
| PubMed ID: 11157794 |
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