Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg2009109.pdf
Reference20 articles.
1. Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B. et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet. 33, 459–461 (2003).
2. Sasaki, A., Kanai, M., Kijima, K., Akaba, K., Hashimoto, M., Hasegawa, H. et al. Molecular analysis of congenital central hypoventilation syndrome. Hum. Genet. 114, 22–26 (2003).
3. Weese-Mayer, D. E., Berry-Kravis, E. M., Zhou, L., Maher, B. S., Silvestri, J. M., Curran, M. E. et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am. J. Med. Genet. A 123A, 267–278 (2003).
4. Matera, I., Bachetti, T., Puppo, F., Di Duca, M., Morandi, F., Casiraghi, G. M. et al. 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. J. Med. Genet. 41, 373–380 (2004).
5. Trochet, D., Hong, S. J., Lim, J. K., Brunet, J. F., Munnich, A., Kim, K. S. et al. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum. Mol. Genet. 14, 3697–3708 (2005).
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2. Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges;Journal of Respiratory Medicine;2014-02-04
3. Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale. Bases génétiques, diagnostic et prise en charge;Revue des Maladies Respiratoires;2013-10
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