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Novel Gene Variants Associated with Primary Ciliary Dyskinesia.

Durkadin Demir Eksi1,2, Elanur Yilmaz3,4, A Erdem Basaran5

  • 1Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, 07070, Turkey. durkadin.eksi@alanya.edu.tr.

Indian Journal of Pediatrics
|March 3, 2022
PubMed
Summary
This summary is machine-generated.

Genetic testing identified disease-causing variants in eight genes in 52.4% of Turkish Caucasian primary ciliary dyskinesia (PCD) cases. Novel variations were found, highlighting the need for advanced genetic diagnostics in PCD.

Keywords:
Ciliary diseasesMutation analysisPrimary ciliary dyskinesiaTargeted next-generation sequencing

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Area of Science:

  • Genetics
  • Rare Diseases
  • Molecular Biology

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
  • Understanding the genetic landscape of PCD in diverse populations is crucial for diagnosis.

Purpose of the Study:

  • To characterize the demographic, clinical, and genetic profile of Turkish Caucasian individuals with PCD.
  • To identify disease-causing genetic variations in a cohort of Turkish Caucasian PCD patients.

Main Methods:

  • Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed on 21 unrelated PCD cases.
  • Sanger sequencing was used to confirm identified variations.
  • Genotype-phenotype correlations were analyzed.

Main Results:

  • Genetic variations were identified in eight genes (CCDC39, CCDC40, CCDC151, DNAAF2, DNAAF4, DNAH11, HYDIN, RSPH4A) in 52.4% (11/21) of patients.
  • CCDC151, DNAH11, and DNAAF2 were the most frequently mutated genes (18% each).
  • Several novel variations were discovered, and significant phenotypic heterogeneity was observed, even among patients with identical mutations.

Conclusions:

  • The targeted NGS panel is effective for identifying known and novel PCD-related variants.
  • This approach aids in the rapid and accurate molecular diagnosis of ciliary diseases.
  • The findings underscore the genetic diversity and phenotypic variability of PCD.