Scientific Research

There are a handful of journal articles that discuss genetic mutations causing CCHS other than PHOX2B. If you know of others, please reach out, and I’ll add them here.

• Hernandez-Miranda LR, Ibrahim DM, Ruffault P-L, et al. Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. PNAS. https://www.pnas.org/doi/10.1073/pnas.1813520115. Published November 28, 2018. Accessed March 15, 2023. 

• Spielmann M, Hernandez-Miranda LR, Ceccherini I, et al. Mutations in myo1h cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics. https://jmg.bmj.com/content/54/11/754. Published November 1, 2017. Accessed March 15, 2023. 

• Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252. https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01460-2. Published September 21, 2020. doi:10.1186/s13023-020-01460-2.  Accessed March 15, 2023.

• In addition, the OMIM database also discusses the genetic heterogeneity of CCHS in its entry for the disease.