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Article

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

BMC medical genomics - 27 May 2025

Amri Yessine, Chouchene Saoussen, Foddha Hajer, Abderahmene Amani, Kooli Ikbel, Toumi Adnen, Hadj Khalifa Kawthar, Mezrigui Rihem, Messaoud Taieb, Hassine Mohsen, Dabboubi Rym

Abstract excerpt

BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, recurrent infections, bleeding tendencies, and progressive neurological impairment. The syndrome is caused by mutations in the LYST gene, which plays a crucial role in lysosomal trafficking. OBJECTIVE: This study aims to characterize the molecular basis of CHS in a Tunisian patient by...

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Topics

Adolescent
Humans
Chediak-Higashi Syndrome
Exome Sequencing
Mutation
Tunisia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40426172
DOI: 10.1186/s12920-025-02145-0
PMCID: PMC12117754

Genes

LYST

Variants

Provenance

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