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Article

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.

Gene - 15 Jun 2024

Jiang Huling, Ping Zepeng, Li Suping, Zhu Jianjun

Abstract excerpt

BACKGROUND: Paired-like Homeobox 2B (PHOX2B) is considered the causative gene of Congenital Central Hypoventilation Syndrome (CCHS), a dominant genetic disorder characterized by impaired central respiratory control and subsequent hypoventilation during sleep. METHODS: Herein, we present a family with recurrent severe CCHS. The potential causative genetic variant was confirmed through Whole-Exome Sequencing (WES),...

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Identifiers

PMID: 38467313
DOI: 10.1016/j.gene.2024.148358

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Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.PMID 38467313Read ↗

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