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Article

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.

BMC genomic data - 26 Feb 2026

Sahli Chayma, Mabrouk Sameh, Jemmeli Nesrine, Nouir Salsabil, Ltaifa Roua, Messaoud Taieb, Abdennebi Hassen Ben, Ferchichi Salima, Ghorbel Mohamed, Laradi Sandrine, Chkioua Latifa

Abstract excerpt

BACKGROUND: Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, liver and, pancreas. This pathology is due the mutations in the CTNS gene that encode the cystinosin protein. In this retrospective study, we aimed to explore the genetic and phenotypic diversity of Tunisian patients with cystinosis in order...

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Identifiers

PMID: 41749111
DOI: 10.1186/s12863-026-01411-z
PMCID: PMC12958636

Genes

CTNS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.PMID 41749111Read ↗

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