Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

Tiziana Bachetti, Marco Di Duca, Matteo Della Monica, Lidia Grappone, Gioacchino Scarano, Isabella Ceccherini

Research output: Contribution to journalArticlepeer-review

Abstract

Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.

Original languageEnglish
JournalPediatric Pulmonology
Volume49
Issue number3
DOIs
Publication statusPublished - Mar 2014

Keywords

  • capillary electrophoresis of fluorescent amplimers
  • congenital central hypoventilation syndrome (CCHS)
  • disease recurrence
  • genetic counseling
  • PHOX2B polyalanine expansion
  • somatic mosaicism

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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