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 |
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Journal | Pediatric Pulmonology |
Volume | 49 |
Issue number | 3 |
DOIs | |
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