Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

ABSTRACT:

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, SLC3A1 and SLC7A9, 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. Molecular screening was performed using sequencing and Quantitative Multiplex PCR of Short Fluorescent Fragments analyses. Functional minigene-based assays have been used to characterize splicing variants.

Results

Eighty-eight pathogenic nucleotide changes were identified in SLC3A1 (63) and <

SUBMITTER: Gaildrat P 

PROVIDER: S-EPMC5511796 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature