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Article

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Journal of human genetics - 1 Apr 2026

Hayasaka Kiyoshi, Sasaki Ayako, Kishikawa Yumiko, Abiko Yu, Arakaki Haruka, Yasukohchi Madoka, Takayama Jun, Tamiya Gen, Hasegawa Hisaya, Ueda Atsushi, Osawa Motoki, Mitsui Tetsuo

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is primarily caused by dominant PHOX2B mutations, with recessive LBX1 or MYO1H mutations being rare. Among PHOX2B mutations, polyalanine repeat expansion mutations (PARMs) are common, whereas non-PARMs (NPARMs) are less frequent. PHOX2B mutations are believed to act through loss-of-function mechanisms combined with dominant-negative and/or toxic gain-of-function...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41188450
DOI: 10.1038/s10038-025-01429-8

Genes

PHOX2B
LBX1
MYO1H
PHOX2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?PMID 41188450Read ↗

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Variable human phenotype associated with novel deletions of the PHOX2B gene.Semantic proximity Read ↗

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

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Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.Semantic proximity Read ↗

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

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