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Article

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Human molecular genetics - 1 Dec 2005

Trochet Delphine, Hong Seok Jong, Lim Jin Kyu, Brunet Jean-François, Munnich Arnold, Kim Kwang-Soo, Lyonnet Stanislas, Goridis Christo, Amiel Jeanne

Abstract excerpt

Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including congenital central hypoventilation syndrome (CCHS), tumours of the sympathetic nervous system and Hirschsprung disease. In CCHS, the prevalent mutation is an expansion of a 20-alanine stretch ranging from +5 to +13 alanines, whereas frameshift and missense...

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PMID: 16249188
DOI: 10.1093/hmg/ddi401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.PMID 16249188Read ↗

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear ImportSemantic proximity Read ↗

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.Semantic proximity Read ↗

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.Semantic proximity Read ↗

Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregationSemantic proximity Read ↗

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.Semantic proximity Read ↗

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.Semantic proximity Read ↗

Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.Semantic proximity Read ↗

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

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

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.Semantic proximity Read ↗

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

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