CTNS mutations in publicly-available human cystinosis cell lines

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments...

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Bibliographic Details
Published inMolecular genetics and metabolism reports Vol. 5; no. C; pp. 63 - 66
Main Authors Zykovich, Artem, Kinkade, Renee, Royal, Gary, Zankel, Todd
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2015
Elsevier
Subjects
Coriell Cell Repository
CTNS
Cystinosis
Mutation
Research Paper
Sequencing
Splicing
Cystinosis
CTNS
Coriell Cell Repository
Mutation
Splicing
Sequencing
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Summary:Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 samples were determined for the first time. The reported disease genotypes of 2 additional samples were found to be incorrect. Furthermore, we identified and experimentally confirmed a novel mutation, c.225+5G>A, which causes skipping of the 5th exon and is associated with infantile nephropathic cystinosis.
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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2015.10.007