A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report
Zaineb Benslimane1, Sinan Yavuz2, Nader Francis2
1General Pediatrics Department, Al Qassimi Women and Children Hospital, Sharjah, United Arab Emirates.
Insights
This study details a boy with childhood interstitial lung disease (chILD) and severe pulmonary arterial hypertension (PAH). Genetic analysis revealed mutations linked to rare syndromes, suggesting a KDM3B gene link to PAH and chILD.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
- Rare Diseases
Background:
- Childhood Interstitial Lung Disease (chILD) comprises diverse pediatric respiratory disorders.
- Rare causes of chILD can involve structural vascular abnormalities.
- Pulmonary Arterial Hypertension (PAH) is a severe condition impacting lung vasculature.
Observation:
- A 10-year-old boy presented with chILD, dysmorphic features, developmental delay, and intellectual disability.
- The patient was diagnosed with severe PAH attributed to venous thromboembolic disease, an uncommon etiology for chILD.
- Whole Exome Sequencing identified mutations in KDM3B and SIN3A genes.
Findings:
- The identified mutations are associated with Diets-Jongmans syndrome (DIJOS) and Witteveen-Kolk syndrome (WITKOS).
- KDM3B mutations have a known association with PAH.
- This case suggests a potential link between KDM3B mutations, PAH, and the development of chILD.
Implications:
- This case expands the understanding of genotypic variations in KDM3B and SIN3A.
- It broadens the clinical spectrum associated with DIJOS and WITKOS syndromes.
- Highlights a potential novel pathway for PAH development in children with specific genetic syndromes.
Abstract:
Childhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children's lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-year-old boy diagnosed with chILD who exhibited specific dysmorphic features, developmental delay, and intellectual disability. He was diagnosed with severe pulmonary arterial hypertension (PAH) due to venous thromboembolic disease, an unusual underlying condition for chILD. A Whole Exome Sequence showed mutations in KDM3B and SIN3A genes, respectively responsible for Diets-Jongmans syndrome (DIJOS) and Witteveen-Kolk syndrome (WITKOS). Both syndromes can explain our patient´s phenotype and KDM3B mutation has been previously described to be associated with PAH. Our case suggests a potential association between KDM3B mutation and PAH leading to chILD. It also enriches the knowledge of genotypic diversity in KDM3B and SIN3A genes as well as the spectrum of clinical associations with DIJOS and WITKOS syndromes.
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