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

doi:10.1002/ppul.22790

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Journal	Pediatric Pulmonology
Volume	49
Issue number	3
DOIs	https://doi.org/10.1002/ppul.22790
Publication status	Published - 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

Access to Document

10.1002/ppul.22790

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title = "Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism",

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.",

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

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AU - Bachetti, Tiziana

AU - Di Duca, Marco

AU - Monica, Matteo Della

AU - Grappone, Lidia

AU - Scarano, Gioacchino

AU - Ceccherini, Isabella

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AB - 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.

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