Can I read SLC7A9 mutations in all three cystinuria subtypes on EtoBox?

SLC7A9 mutations in all three cystinuria subtypes by Daniel Leclerc; Marylise Boutros; Daniel Suh; Qing Wu; Manuel Palacin; James R. Ellis; Paul Goodyer; Rima Rozen is a Medicine article available to read on EtoBox.

What is SLC7A9 mutations in all three cystinuria subtypes about?

## Background: Cystinuria is an inherited disorder of cystine and dibasic amino acid transport in kidney. subtypes are defined by the urinary cystine excretion patterns of the obligate heterozygous parents: type i/n (fully recessive or silent); type ii/n (high excretor); type iii/n (moderate excretor). the first gene implicated in cystinuria (slc3a1) is associated with the type i urinary phenotype. a second cystinuria gene (slc7a9) was recently isolated, and mutations of this gene were associated with dominant (non-type i) cystinuria alleles. here we report genotype-phenotype studies of slc7a9 mutations in a cohort of well-characterized cystinuria probands and their family members. ## Methods: Individual exons of the slc7a9 gene were screened by single strand conformation polymorphism (sscp) analysis and sequencing of abnormally migrating fragments. ## Results: Seven mutations were identified. a single bp insertion (799insa) was present in four patients: on type iii alleles in two patients and on type ii alleles in two patients. these results suggest that type ii and type iii may be caused by the same mutation and, therefore, other factors must influence urinary cystine excretion.

Who reads SLC7A9 mutations in all three cystinuria subtypes?

Author

Daniel Leclerc; Marylise Boutros; Daniel Suh; Qing Wu; Manuel Palacin; James R. Ellis; Paul Goodyer; Rima Rozen

Publisher

Nature Publishing Group; Elsevier ; Elsevier Inc.; Elsevier BV; ScienceOpen (ISSN 0085-2538)

Published

2002

Language

EN

Field

Medicine (Health Sciences)