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 | |
| Publication status | Published - Mar 2014 |
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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
Cite this
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism. / Bachetti, Tiziana; Di Duca, Marco; Monica, Matteo Della; Grappone, Lidia; Scarano, Gioacchino; Ceccherini, Isabella.
In: Pediatric Pulmonology, Vol. 49, No. 3, 03.2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism
AU - Bachetti, Tiziana
AU - Di Duca, Marco
AU - Monica, Matteo Della
AU - Grappone, Lidia
AU - Scarano, Gioacchino
AU - Ceccherini, Isabella
PY - 2014/3
Y1 - 2014/3
N2 - 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.
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.
KW - capillary electrophoresis of fluorescent amplimers
KW - congenital central hypoventilation syndrome (CCHS)
KW - disease recurrence
KW - genetic counseling
KW - PHOX2B polyalanine expansion
KW - somatic mosaicism
UR - http://www.scopus.com/inward/record.url?scp=84894236325&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84894236325&partnerID=8YFLogxK
U2 - 10.1002/ppul.22790
DO - 10.1002/ppul.22790
M3 - Article
C2 - 23460545
AN - SCOPUS:84894236325
VL - 49
JO - Pediatric Pulmonology
JF - Pediatric Pulmonology
SN - 8755-6863
IS - 3
ER -