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Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members
Author(s) -
Sivan Yakov,
Zhou Amy,
Jennings Lawrence J.,
BerryKravis Elizabeth M.,
Yu Min,
Zhou Lili,
Rand Casey M.,
WeeseMayer Debra E.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61047
Subject(s) - congenital central hypoventilation syndrome , proband , asymptomatic , disease , genetics , hypoventilation , presentation (obstetrics) , allele , biology , mutation , medicine , gene , respiratory system , surgery
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease characterized by autonomic nervous system dysregulation. Central hypoventilation is the most prominent and clinically important presentation. CCHS is caused by mutations in paired‐like homeobox 2b ( PHOX2B ) and is inherited in an autosomal dominant pattern. A co‐occurrence of two asymptomatic PHOX2B variants with a classical CCHS presentation highlights the importance of clinical PHOX2B testing in parents and family members of all CCHS probands. Despite being an autosomal dominant disease, once a polyalanine repeat expansion mutation has been identified, sequencing of the other allele should also be considered.