Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

@article{AlcntaraOrtigoza2008AnalysisOT,
  title={Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.},
  author={Miguel Angel Alc{\'a}ntara-Ortigoza and Leticia Belmont-Mart{\'i}nez and Marcela Vela-Amieva and Ariadna Gonz{\'a}lez-Del Angel},
  journal={Genetic testing},
  year={2008},
  volume={12 3},
  pages={409-14}
}
OBJECTIVE Identify CTNS gene mutations in nephropathic cystinosis Mexican patients. SUBJECTS AND METHODS Eleven patients were included, nine presenting infantile nephropathic cystinosis and two siblings with the juvenile phenotype. The common 57-kb deletion was detected by multiplex PCR using large deletion marker-2 (LDM-2)/exon 4 set primers. Those alleles negative for 57-kb deletion were screened by single strand confirmation polymorphism (SSCP) and subsequent direct sequencing. RESULTS… CONTINUE READING