Congenital central hypoventilation syndrome: Genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

S. Parodi, C. Vollono, M. P. Baglietto, M. Balestri, M. Di Duca, P. A. Landri, I. Ceccherini, G. Ottonello, M. R. Cilio

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder. Although most CCHS associated PHOX2B mutations occur de novo, about 10% of the cases are inherited from apparently asymptomatic parents, thus confirming variable expressivity and incomplete penetrance of PHOX2B mutations. Three asymptomatic parents of children affected with CCHS, and found to carry the same PHOX2B expansion mutations as their siblings, were studied by overnight polysomnography and somatic mosaicism analysis. In one case, significant sleep breathing control anomalies were detected, while the other two resulted in normal. In tissue-specific allele studies, mosaicism with a comparatively low mutant allele proportion was showed in the two unaffected adult carriers. Accurate polysomnography and assessment of the degree of somatic mosaicism should be conducted in asymptomatic carriers of PHOX2B mutations, as they may unmask subclinical but significant anomalies.

Original languageEnglish
Pages (from-to)289-293
Number of pages5
JournalClinical Genetics
Volume78
Issue number3
DOIs
Publication statusPublished - Sep 2010

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Genetic Association Studies
Mosaicism
Parents
Mutation
Polysomnography
Alleles
Inborn Genetic Diseases
Penetrance
Siblings
Sleep
Respiration
Congenital central hypoventilation syndrome

Keywords

  • Asymptomatic carriers
  • Congenital central hypoventilation syndrome
  • Genotype
  • Phenotype correlation
  • Polysomnography
  • Somatic mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Congenital central hypoventilation syndrome : Genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. / Parodi, S.; Vollono, C.; Baglietto, M. P.; Balestri, M.; Di Duca, M.; Landri, P. A.; Ceccherini, I.; Ottonello, G.; Cilio, M. R.

In: Clinical Genetics, Vol. 78, No. 3, 09.2010, p. 289-293.

Research output: Contribution to journalArticle

Parodi, S. ; Vollono, C. ; Baglietto, M. P. ; Balestri, M. ; Di Duca, M. ; Landri, P. A. ; Ceccherini, I. ; Ottonello, G. ; Cilio, M. R. / Congenital central hypoventilation syndrome : Genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. In: Clinical Genetics. 2010 ; Vol. 78, No. 3. pp. 289-293.
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