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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations
Ajay S Kasi1, Hong Li2, Taryn J Jurgensen3
1Department of Pediatrics, Division of Pediatric Pulmonology, Emory University, Children's Healthcare of Atlanta, Atlanta, Georgia.
Summary
Congenital central hypoventilation syndrome (CCHS) with PHOX2B nonpolyalanine repeat mutations (NPARM) presents with varied symptoms. Individualized care plans are crucial as mutation type and location influence disease severity.
Area of Science:
- Genetics
- Pediatric Pulmonology
- Neurology
Background:
- Congenital central hypoventilation syndrome (CCHS) is a rare autonomic nervous system disorder caused by PHOX2B gene variants.
- Nonpolyalanine repeat mutations (NPARM) in PHOX2B account for 10% of CCHS cases and are often linked to severe phenotypes.
Purpose of the Study:
- To describe the clinical phenotypes of patients with CCHS resulting from PHOX2B NPARM.
- To investigate the variability in disease presentation among patients with PHOX2B NPARM.
Main Methods:
- A retrospective case series was conducted.
- Phenotypes of 8 patients with CCHS and PHOX2B NPARM were evaluated at two children's hospitals.
Main Results:
- Most patients (7/8) diagnosed in infancy presented with respiratory depression.
- Only one patient exhibited a severe phenotype including assisted ventilation, Hirschsprung's disease, and a neural crest tumor.
- Other common findings included sleep-only ventilation/oxygen support and Hirschsprung's disease; no echocardiographic abnormalities were noted.
Conclusions:
- Patients with CCHS and PHOX2B NPARM exhibit diverse phenotypes.
- Individualized care plans are essential for managing CCHS.
- The specific type and location of PHOX2B NPARM may correlate with phenotype severity.
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