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Article

Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.

Human mutation - 1 Jan 2026

Drackley Andy, Skol Andrew D, Rand Casey M, Weese-Mayer Debra E, Yap Kai Lee

Abstract excerpt

Pathogenic heterozygous variants in PHOX2B are associated with congenital central hypoventilation syndrome (CCHS), which is characterized by autonomic nervous system dysregulation severely affecting respiratory control. The interpretation of PHOX2B missense variation is challenging due to their rarity and the lack of available functional evidence. Consequently, most PHOX2B missense variants are classified as...

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Computational Biology
Computer Simulation
Homeodomain Proteins
Hypoventilation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Domains

Sleep Apnea, Central

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Open in PubMed Open full text

Identifiers

PMID: 41809564
DOI: 10.1155/humu/8001520
PMCID: PMC12968325

Genes

PHOX2B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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