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Article

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.

Clinical genetics - 1 May 2026

AbdulWahab Atqah, Mohamed Reem, Hamid Amani, Alzoubi Hadeel, Love Donald R, Robinson Kelly, Janahi Ibrahim, Abu-Hasan Mutasim

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic disease caused by variants affecting more than 50 cilia genes. We report the prevalence and distribution of all known and novel variants in children with PCD in Qatar. The cohort included 28 children: 16 Qatari, 3 Egyptian, 2 Tunisian, 1 Sudanese, 1 Algerian, 1 Pakistani, 2 Iranian, and 2 Indian. Consanguinity rate was 82.1%. Median age at diagnosis was 7.5 years...

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

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Source

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Identifiers

PMID: 41267578
DOI: 10.1111/cge.70112
PMCID: PMC13066771

Genes

DNAH11
DNAH5
CCDC39
DNAAF2
DNAAF3
ODAD4

Variants

Provenance

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