Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

作者： Heather M. Byers , Maida Chen , Andrew S. Gelfand , Bruce Ong , Marisa Jendras

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摘要: Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It characterized severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8-base pair duplication PHOX2B; c.691_698dupGGCCCGGG (p.Gly234Alafs*78) predominant enteral phenotype relatively mild respiratory phenotype. The attenuated reported here elsewhere suggests emergent genotype:phenotype correlation which challenges current paradigm of invoking mechanical ventilation for all infants diagnosed CCHS. Best treatment requires careful clinical judgment ideally assistance care team expertise

参考文章(26)

Alexandre Pattyn, Xavier Morin, Harold Cremer, Christo Goridis, Jean-FranÇois Brunet, The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives Nature. ,vol. 399, pp. 366- 370 ,(1999) , 10.1038/20700

Hiroko Nobuta, Maria Roberta Cilio, Olivier Danhaive, Hui-Hsin Tsai, Srinivasan Tupal, Sandra M. Chang, Alice Murnen, Faith Kreitzer, Verenice Bravo, Catherine Czeisler, Hamza Numan Gokozan, Patrick Gygli, Sean Bush, Debra E. Weese-Mayer, Bruce Conklin, Siu-Pok Yee, Eric J. Huang, Paul A. Gray, David Rowitch, José Javier Otero, Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathologica. ,vol. 130, pp. 171- 183 ,(2015) , 10.1007/S00401-015-1441-0

Elizabeth M. Berry-Kravis, Lili Zhou, Casey M. Rand, Debra E. Weese-Mayer, Congenital Central Hypoventilation Syndrome American Journal of Respiratory and Critical Care Medicine. ,vol. 174, pp. 1139- 1144 ,(2006) , 10.1164/RCCM.200602-305OC

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Isabella Ceccherini, Thomas G. Keens, Darius A. Loghmanee, Ha Trang, An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management American Journal of Respiratory and Critical Care Medicine. ,vol. 181, pp. 626- 644 ,(2010) , 10.1164/RCCM.200807-1069ST

Solveig Heide, Julien Masliah-Planchon, Bertrand Isidor, Anne Guimier, Damien Bodet, Carole Coze, Anne Deville, Estelle Thebault, Corinne Jeanne Pasquier, Elisabeth Cassagnau, Gaelle Pierron, Nathalie Clément, Gudrun Schleiermacher, Jeanne Amiel, Olivier Delattre, Michel Peuchmaur, Franck Bourdeaut, Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations. Pediatric Blood & Cancer. ,vol. 63, pp. 71- 77 ,(2016) , 10.1002/PBC.25723

E H Raabe, M Laudenslager, C Winter, N Wasserman, K Cole, M LaQuaglia, D J Maris, Y P Mosse, J M Maris, Prevalence and functional consequence of PHOX2B mutations in neuroblastoma Oncogene. ,vol. 27, pp. 469- 476 ,(2008) , 10.1038/SJ.ONC.1210659

Stéphane Dauger, Alexandre Pattyn, Frédéric Lofaso, Claude Gaultier, Christo Goridis, Jorge Gallego, Jean-François Brunet, Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways Development. ,vol. 130, pp. 6635- 6642 ,(2003) , 10.1242/DEV.00866

Sara Parodi, Eleonora Di Zanni, Simona Di Lascio, Paola Bocca, Ignazia Prigione, Diego Fornasari, Maria Pennuto, Tiziana Bachetti, Isabella Ceccherini, The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. Journal of Molecular Medicine. ,vol. 90, pp. 1025- 1035 ,(2012) , 10.1007/S00109-012-0868-1

Jeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre Ray, Michel Simonneau, Michel Vekemans, Arnold Munnich, Claude Gaultier, Stanislas Lyonnet, None, Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome Nature Genetics. ,vol. 33, pp. 459- 461 ,(2003) , 10.1038/NG1130

10.

V. Dubreuil, N. Ramanantsoa, D. Trochet, V. Vaubourg, J. Amiel, J. Gallego, J.-F. Brunet, C. Goridis, A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons Proceedings of the National Academy of Sciences of the United States of America. ,vol. 105, pp. 1067- 1072 ,(2008) , 10.1073/PNAS.0709115105

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

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Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

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