Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism-Reference-Cited by-同舟云学术

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

Published:2013-03-04 Issue:3 Volume:49 Page:E45-E47
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr Pulmonol.

Author:

Bachetti Tiziana¹,Di Duca Marco²,Monica Matteo Della³,Grappone Lidia⁴,Scarano Gioacchino³,Ceccherini Isabella¹

Affiliation:

1. U.O.C. Medical Genetics; Institute Giannina Gaslini; Genova Italy

2. Laboratory of Pathophysiology of Uremia; Institute Giannina Gaslini; Genova Italy

3. Medical Genetics Department; Gaetano Rummo General Hospital; Benevento Italy

4. Neonatology and Neonatal Intensive Care Unit; Gaetano Rummo General Hospital; Benevento Italy

Funder

Italian Ministery of Health

Fondazione Cariplo

Associazione Italiana Ricerca sul Cancro

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ppul.22790/fullpdf

Reference8 articles.

1. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management;Weese-Mayer;Am J Respir Crit Care Med,2010

2. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome;Parodi;Hum Mut,2008

3. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome;Trochet;Am J Respir Crit Care Med,2008

4. Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in Congenital Central Hypoventilation Syndrome;Bachetti;J Mol Med,2011

5. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both Congenital and Late-Onset Central Hypoventilation Syndrome;Matera;J Med Genet,2004

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4. Guidelines for diagnosis and management of congenital central hypoventilation syndrome;Orphanet Journal of Rare Diseases;2020-09-21

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