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Mutation analysis of SLC7A9 in cystinuria patients in Sweden

Harnevik, Lotta (author)
Linköpings universitet,Cellbiologi,Hälsouniversitetet
Fjellstedt, Erik (author)
Lund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine,Department of Nephrology and Transplantation, Malmö University Hospital, Malmö, Sweden
Molbæk, Annette (author)
Linköpings universitet,Cellbiologi,Hälsouniversitetet
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Denneberg, Torsten (author)
Linköpings universitet,Urologi,Hälsouniversitetet
Söderkvist, Peter (author)
Linköpings universitet,Cellbiologi,Hälsouniversitetet
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 (creator_code:org_t)
Mary Ann Liebert Inc, 2003
2003
English.
In: Genetic Testing. - : Mary Ann Liebert Inc. - 1090-6576 .- 1557-7473. ; 7:1, s. 13-20
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals. Three subtypes of cystinuria have been described (type I, II, and III): type I is caused by mutations in the SLC3A1 gene, whereas non-type I (II and III) has been associated with SLC7A9 mutations. Of the 53 patients reported in our previous work, patients that showed SLC7A9 mutations in single-strand conformation polymorphism (SSCP) screening and/or either lacked or showed heterozygosity for SLC3A1 mutations were included in the present study. The entire coding region and the exon/intron boundaries of the SLC7A9 gene were analyzed by means of both SSCP and DNA sequencing in 16 patients, all but one of which were clinically diagnosed as homozygous cystinurics. Three novel SLC7A9 mutations were identified in the patient group: two missense mutations (P261L and V330M), and one single base-pair deletion (1009 delA). We also detected the previously reported A182T and nine novel polymorphisms in the patients. Mutations V330M and 1009delA occurred on different alleles in one individual, and we suggest that these mutations cause cystinuria in this patient. One patient that was homozygously mutated in the SLC3A1 gene carried the third novel mutation (P261L). We conclude that SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria. The absence of SLC3A1 and SLC7A9 mutations in a substantial proportion of the patients implies that mutations in parts of the genes that were not analyzed may be present, as well as large deletions that escape detection by the methods used. However, our results raise the question of whether other, as yet unknown genes, may also be involved in cystinuria.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

Keyword

MEDICINE
MEDICIN

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