Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients

• Published in: Journal of medical genetics Vol. 40; no. 2; pp. e10 - 10
• Main Authors: Fitze, G, Paditz, E, Schläfke, M, Kuhlisch, E, Roesner, D, Schackert, H K
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.02.2003; BMJ Publishing Group LTD; BMJ Group
• Subjects: Congenital diseases; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; Drosophila Proteins; Electronic Letter; Gene Frequency; Genes; Germ-Line Mutation; Humans; Hypotheses; hypoventilation syndrome; Hypoxia; idiopathic congenital central; Kinases; Mutation; polymorphism; Polymorphism, Genetic; Population; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases - genetics; RET proto-oncogene; Sleep; Sleep Apnea, Central - genetics; Sleep Apnea, Central - pathology; Ventilation
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.40.2.e10

The apparent functional defect possibly stems from an abnormal migration or differentiation of neural crest derived cells into the autonomic ventilatory control system. [...]idiopathic congenital central hypoventilation syndrome may be regarded as a feature of complex neurocristopathies, as confirmed by the observation of a combination of CCHS and other neurocristopathies. 5 Specifically, CCHS has been reported in association with neoplastic as well as dysgenetic neurocristopathies, such as neuroblastomas 6 and ganglioneuromas, 7 but the frequency of such cases is lower than 5%. [...]the identification of additional RET germline mutations in CCHS patients and the association of a specific RET variant with this phenotype suggest a contribution of RET to the aetiology of CCHS as the most severe form of ANS dysfunction.