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Article

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

American journal of medical genetics. Part A - 1 Sept 2012

Rand Casey M, Yu Min, Jennings Lawrence J, Panesar Kelvin, Berry-Kravis Elizabeth M, Zhou Lili, Weese-Mayer Debra E

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation, is caused by mutations in the PHOX2B gene. Most mutations occur de novo, but recent evidence suggests that up to 25% are inherited from asymptomatic parents with somatic mosaicism for these mutations. However, to date, germline mosaicism has not been reported. This report...

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PMID: 22821709
DOI: 10.1002/ajmg.a.35499

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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).PMID 22821709Read ↗

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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

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