Congenital central hypoventilation syndrome

Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Yakov Sivan*, Amy Zhou, Lawrence J Jennings, Elizabeth M. Berry-Kravis, Min Yu, Lili Zhou, Casey M. Rand, Debra E Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)503-506
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number3
DOIs
StatePublished - Mar 1 2019

Fingerprint

Homeobox Genes
Hypoventilation
Mutation
Autonomic Nervous System
Rare Diseases
Parents
Alleles
Congenital central hypoventilation syndrome

Keywords

  • CCHS
  • autosomal dominant
  • autosomal recessive
  • non-polyalanine repeat mutation
  • polyalanine repeat expansion mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members",
abstract = "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.",
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author = "Yakov Sivan and Amy Zhou and Jennings, {Lawrence J} and Berry-Kravis, {Elizabeth M.} and Min Yu and Lili Zhou and Rand, {Casey M.} and Weese-Mayer, {Debra E}",
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Congenital central hypoventilation syndrome : Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members. / Sivan, Yakov; Zhou, Amy; Jennings, Lawrence J; Berry-Kravis, Elizabeth M.; Yu, Min; Zhou, Lili; Rand, Casey M.; Weese-Mayer, Debra E.

In: American Journal of Medical Genetics, Part A, Vol. 179, No. 3, 01.03.2019, p. 503-506.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Congenital central hypoventilation syndrome

T2 - Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

AU - Sivan, Yakov

AU - Zhou, Amy

AU - Jennings, Lawrence J

AU - Berry-Kravis, Elizabeth M.

AU - Yu, Min

AU - Zhou, Lili

AU - Rand, Casey M.

AU - Weese-Mayer, Debra E

PY - 2019/3/1

Y1 - 2019/3/1

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AB - 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.

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KW - autosomal recessive

KW - non-polyalanine repeat mutation

KW - polyalanine repeat expansion mutation

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