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Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.

Molecular biology reports - 23 Jul 2026

Ltaifa Roua, Sahli Chayma, Boudabous Hela, Massoud Taieb, Abdennebi Hassen Ben, Ferchichi Salima, Chkioua Latifa

Abstract excerpt

BACKGROUND: Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency, leading to the accumulation of dermatan sulfate and heparan sulfate. This study aimed to investigate the molecular defects underlying MPS II in tP2ee unrelated Tunisian patients. METHODS: The IDS gene was analyzed by direct DNA...

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Identifiers

PMID: 42489956
DOI: 10.1007/s11033-026-12421-6

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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