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Article

First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.

BMC pediatrics - 9 May 2025

Shaheen Manal M, Mujahed Ramzi H, Abusabha Saja E, Alwahsh Iman M, Abufara Areen A, Junaidi Leen J, Alkablan Haya A

Abstract excerpt

BACKGROUND: Claes-Jensen syndrome (CJS) is a rare X-linked intellectual disability caused by mutations in the KDM5C gene, encoding a histone demethylase involved in chromatin remodeling and neurodevelopment. Males with hemizygous mutations in KDM5C present with intellectual disability, dysmorphism, and neurodevelopmental delays. Mutations, either maternally transmitted or de novo, account for 0.7-2.8% of X-linked...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40346491
DOI: 10.1186/s12887-025-05709-2
PMCID: PMC12063304

Genes

KDM5C

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