Related Experiment Video

Updated: Aug 12, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

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

Published on: January 19, 2022

4.4K

A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a

Hasan M Isa1,2, Fatema A Alkharsi2, Maryam Y Busehail2

  • 1Department of Pediatrics, Arabian Gulf University, Manama, BHR.

Cureus
|January 30, 2023
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function. This case highlights a novel DNAH9 mutation in a patient with jejunal atresia and developmental delay.

Area of Science:

  • Genetics
  • Rare Diseases
  • Pediatrics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder impacting cilia function in multiple organs.
  • PCD prevalence is estimated at 1 in 15,000-20,000 individuals, characterized by chronic sinusitis, bronchiectasis, and situs inversus in 50% of cases.

Observation:

  • This report details a unique case of PCD in Bahrain.
  • The patient presented with type IIIb jejunal atresia and developmental delay secondary to vitamin B12 deficiency.
  • Genetic analysis revealed a novel DNAH9 gene mutation in a compound heterozygous state.

Findings:

  • The study identifies a new DNAH9 mutation associated with primary ciliary dyskinesia.
  • This case presents a rare co-occurrence of PCD with jejunal atresia and vitamin B12 deficiency-related developmental delay.
  • Early diagnosis and intervention are crucial for preventing irreversible lung damage in PCD patients.

Implications:

  • This case expands the known spectrum of DNAH9 mutations and their clinical manifestations.
  • Highlights the importance of considering rare genetic disorders in complex pediatric cases.
  • Emphasizes the need for multicenter collaborations to improve PCD diagnosis and treatment outcomes.

Keywords:
bahrainjejunal atresiakartagener syndromeprimary ciliary dyskinesiasitus inversus

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