Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in Type I patients

Kidney International

Volumn 49, Issue 5, 1996, Pages 1401-1406

  Horsford, Jonathan ^a   Saadi, Irfan ^a   Raelson, John ^a   Goodyer, Paul R ^a   Rozen, Rima ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANADA; CLINICAL ARTICLE; CYSTINURIA; FEMALE; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; PRIORITY JOURNAL;

EID: 0029934548     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1038/ki.1996.197     Document Type: Article

References (12)

1. SCRIVER CR, CLOW CL, READE TM, GOODYER PR: Ontogeny modifies manifestations of cystinuria genes: Implications for counselling. J Pediatr 106:411-416, 1985
2. SEGAL S, THIER SO: Cystinuria in The Molecular and Metabolic Bases of Inherited Disease, edited by SCRIVER CR, BEAUDET AL, SLY WS, VALLE D, New York, McGraw-Hill, 1995, pp 3581-3601
3. LEE W-S, WELLS RG, SABBAG RV, MOHANDAS TK, HEDIGER MA: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest 91:1959-1963, 1993
4. ZHANG X-X, ROZEN R, HEDIGER MA, GOODYER P, EYDOUX P: Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. Genomics 24:413-414, 1994
5. PRAS E, ARBER N, AKSENTIJEVICH I, KATZ G, SCHAPIRO JM, PROSEN L, GRUBERG L, HAREL D, LIBERMAN U, WEISSENBACH J, PRAS M, KASTNER DL: Localization of a gene causing cystinuria to chromosome 2p. Nature Genet 6:415-419, 1994
6. CALONGE MJ, GASPARINI P, CHILLARON J, CHILLON M, GALLUCCI M, ROUSAUD F, ZELANTE L, TESTAR X, DALLAPICCOLA B, DI SILVERIO F, BARCELO P, ESTIVILL X, ZORZANO A, NUNES V, PALACIN M: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet 6:420-425, 1994
7. GASPARINI P, CALONGE MJ, BISCEGLIA L, PURROY J, DIANZANI I, NOTARANGELO A, ROUSAUD F, GALLUCCI M, TESTAR X, PONZONE A, ESTIVILL X, ZORZANO A, PALACIN M, NUNES V, ZELANTE L: Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 57:781-788, 1995
8. PRAS E, RABEN N, GOLOMB E, ARBER N, AKSENTIJEVICH I, SCHAPIRO JM, HAREL D, KATZ G, LIBERMAN U, PRAS M, KASTNER DL: Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet 56:1297-1303, 1995
9. WELLS RG, HEDIGER MA: Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases. Proc Natl Acad Sci USA 89:5596-5600, 1992
10. GOODYER PR, CLOW C, READE T, GIRARDIN C: Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J Pediatr 122:568-572, 1993
11. JOHN SWM, WEITZNER G, ROZEN R, SCRIVER C: A rapid procedure for extracting genomic DNA from leukocytes. Nucl Acid Res 19:408, 1991
12. GOYETTE P, SUMNER JS, MILOS R, DUNCAN AMV, ROSENBLATT DS, MATTHEWS RG, ROZEN R: Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification. Nature Genet 7:195-200, 1994