Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

[cystinuria]

Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule . Classically , cystinuria is classified as type I (silent heterozygotes ) and non-type I (heterozygotes with urinary hyperexcretion of cystine ). Molecularly , cystinuria is classified as type A (mutations on SLC 3 A 1 gene ) and type B (mutations on SLC 7 A 9 gene ). The goal of this study is to provide a comprehensive clinical , biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with cystinuria in order to provide insight into genotype-phenotype correlations . We describe seven type I and five non-type I patients . Regarding the molecular classification , seven patients were type A and five were type B . In SLC 3 A 1 gene , two large genomic rearrangements and 13 sequence variants , including four new variants c .611 -2 A >C ; c .1136 +44 G >A ; c .1597 T (p .Y 533 N ); c .*70 A >G , were found . One large genomic rearrangement was found in SLC 7 A 9 gene as well as 24 sequence variants including 3 novel variants : c .216 C >T (p .C 7 2 C ), c .1119 G >A (p .S 373 S ) and c .*82 C >T . In our cohort the most frequent pathogenic mutations were : large rearrangements (33 .3 % of mutant alleles ) and a missense mutation c .1400 T >C (p .M 467 T ) (11 .1 %). This report expands the spectrum of SLC 3 A 1 and SLC 7 A 9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with cystinuria .

Diseases
Validation

Diseases presenting "large rearrangements" symptom

cohen syndrome

cystinuria

kallmann syndrome

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