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Article

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.

Journal of human genetics - 1 May 2012

Meguro Toru, Yoshida Yuki, Hayashi Makiko, Toyota Kentaro, Otagiri Tesshu, Mochizuki Narutaka, Kishikawa Yumiko, Sasaki Ayako, Hayasaka Kiyoshi

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS; MIM 209880) is caused mostly by dominant alanine expansion (most prevalent is 7-alanine expansion) mutations in PHOX2B. More than 90% of the alanine expansion mutations had been considered to be de novo due to unequal crossover during gametogenesis. However, a recent report stated that 25% of patients inherited the alanine-expanded allele from their parents with...

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PMID: 22437207
DOI: 10.1038/jhg.2012.27

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.PMID 22437207Read ↗

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