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Background: Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney and the intestine leading to increased urinary cystine excretion and nephrolithiasis. Two genes, and , coding respectively for rBAT and b0,+AT, account for the genetic basis of cystinuria.
Methods: This study reports the clinical and molecular characterization of a French cohort including 112 cystinuria patients and 25 relatives from 99 families.
Digenic Inheritance in Cystinuria Mouse Model.
PLoS One
May 2016
Molecular Genetics Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), U730, Hospitalet de Llobregat, Barcelona, Spain; Genetic Section, Physiology Science II Department, Barcelona University (UB), Barcelona, Spain.
Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria type A, whereas mutations in SLC7A9, which encodes the light subunit b0,+AT, cause cystinuria type B.
View Article and Find Full Text PDFCystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
J Genet
April 2011
Faculty of Medicine, University Children's Hospital, Skopje 1000, Republic of Macedonia.
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
J Med Genet
January 2005
Centre of Medical and Molecular Genetics (IRO), Hospital Duran i Reynals, Barcelona, Spain.
Objective: To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria.
Methods: 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands.
Results: Mutations were identified in 97% of the probands, representing 282 alleles (86.
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