A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family

Article ID	Journal	Published Year	Pages	File Type
2818021	Gene	2012	4 Pages	PDF

Abstract

âº Cystinosis can be caused by hard-to-detect copy number mutations in CTNS. âº MLPA represents an appropriate tool for unraveling this class of mutations. âº We developed and validated a CTNS-specific MLPA assay. âº Our assay identified a novel CTNS-deletion in a previously unresolved case. âº This deletion, as the first of its kind, does not affect the coding sequence.

Keywords

MLPA CTNS multiplex ligation-dependent probe amplification deletion Cystinosis Cystinosin Copy number UTR یا untranslated regions untranslated region polymerase chain reaction PCR basepairs