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Article

PHOX2B polyalanine repeat mutation alters the transcriptome of neuronal progenitor cells in congenital central hypoventilation syndrome.

Neurobiology of disease - 1 Oct 2026

Stobdan Tsering, Ventrapragada Vaishnavi, Zhao Helen, Yao Hang, Zhou Dan, Dwivedi Ila, Lesser Daniel, Haddad Gabriel

Abstract excerpt

Mutation in paired-like homeobox 2B (PHOX2B) is used as the diagnostic marker of Congenital Central Hypoventilation Syndrome (CCHS). The mutant gene/protein affects neural crest cells embryonic development which leads to congenital central hypoventilation syndrome (CCHS). When individuals also have Hirschsprung's disease (HSCR) with CCHS it is known as Haddad syndrome (HS). Previous studies on CCHS/HS have mainly...

Read the complete abstract on PubMed

Topics

Humans
Homeodomain Proteins
Sleep Apnea, Central
Transcription Factors
Hypoventilation
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neural Stem Cells

Transcriptome

Peptides

Source

Identifiers

PMID: 42480943
DOI: 10.1016/j.nbd.2026.107544

Genes

PHOX2B
L1CAM
NFASC
ONECUT2
STMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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PHOX2B polyalanine repeat mutation alters the transcriptome of neuronal progenitor cells in congenital central hypoventilation syndrome.PMID 42480943Read ↗

<i>PHOX2B</i> polyalanine repeat mutation has a profound impact on the transcriptome of neuronal progenitor cells in Haddad syndromeSemantic proximity Read ↗

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.Semantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.Semantic proximity Read ↗

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.Semantic proximity Read ↗

Contributions of PHOX2B in the Pathogenesis of Hirschsprung DiseaseSemantic proximity Read ↗

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.Semantic proximity Read ↗

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.Semantic proximity Read ↗

NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.Semantic proximity Read ↗

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