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Updated: Jun 21, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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Genetics of 67 patients of suspected primary ciliary dyskinesia from India

Kana Ram Jat1, Mohammed Faruq2, Shishir Jindal1

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Clinical Genetics
|July 15, 2024
PubMed

Insights

This study investigates the genetic profile of primary ciliary dyskinesia (PCD) in Indian children. Researchers identified 108 unique variants across 40 genes, highlighting LRRC6, DNAH5, CCDC39, and HYDIN as common in definite PCD cases.

Area of Science:

  • Genetics
  • Rare Diseases
  • Respiratory Medicine

Background:

  • Limited data exists on the genetic landscape of primary ciliary dyskinesia (PCD) in developing nations.
  • This study addresses this gap by examining the genetic profile of suspected PCD cases in India.

Purpose of the Study:

  • To investigate the genetic underpinnings of primary ciliary dyskinesia (PCD) in a cohort of Indian children.
  • To identify common and novel genetic variants associated with PCD in the Indian population.

Main Methods:

  • A prospective cross-sectional study enrolled 162 children with suspected PCD.
  • Clinical data, laboratory tests, and whole exome sequencing (WES) were utilized.
  • Genetic variants were analyzed in 67 patients with positive WES findings.

Main Results:

  • 108 unique variants were identified in 40 genes among 67 patients.
  • 33 variants were classified as pathogenic or likely pathogenic (P/LP), including nine novel variants.
  • In definite PCD cases (n=29), variants were found in 16 genes, with LRRC6, DNAH5, CCDC39, and HYDIN being the most frequent.

Conclusions:

  • The study identified a distinct spectrum of genetic variants in Indian patients with PCD.
  • Findings underscore the need for a tailored genetic testing panel for PCD specific to the Indian population.

Keywords:
Kartagener syndromemutationprimary ciliary dyskinesia

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