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PHOX2B polyalanine repeat mutation alters the transcriptome of neuronal progenitor cells in congenital central hypoventilation syndrome
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DOI：10.1016/j.nbd.2026.107544.png)
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Abstract
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• Haddad syndrome (HS) patient-derived neuroepithelial stem cells revealed that PHOX2B polyalanine repeat mutations (PHOX2B-PARM) profoundly alter the cellular transcriptional landscape. • A single heterozygous copy of the PHOX2B-PARM mutation resulted in more than 8-fold differential gene expression, indicating strong transcriptional dysregulation. • Differentially expressed genes were significantly enriched in neuronal development, synapse organization, and L1CAM-mediated synaptogenesis pathways. • The study establishes a disease-relevant stem cell model for HS, providing a framework for future mechanistic and therapeutic studies.
Keywords:
PHOX2B
Haddad syndrome
Congenital central hypoventilation syndrome
Poly-alanine repeat mutation
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