先天性中枢性低通气综合征的RET受体酪氨酸激酶基因突变分析.pdfVIP

American Journal of Medical Genetics 63:603-609 (1996) RAPID PUBLICATION CONGENITAL CENTRAL HYPOVENTILATION SYNDROME: MUTATION ANALYSIS OF THE RECEPTOR TYROSINE KINASE RET StaceyBolk, Misha Angrist, Stuart Schwartz, Jean M. Silvestri, Debra E. Weese-Mayer, and Aravinda Chakravarti Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio (S.B., M.A., S.S., A.C.); Department of Pediatrics, Rush Medical College of Rush University, Rush Children’s Hospital at Rush-Presbyterian-St.Luke’s Medical Center, Chicago, Illinois (D.E.W.-M., J.M.S) Congenital central hypoventilation syndrome (CCHS) for a substantial fi-action of CCHS in this patient usually occurs as an isolated phenotype. However, population, and that other candidate genes invohed in 16% of the index cases are also affected with neural crest cell differentiation and development must Hirschsprung disease (HSCR). Complex segregation be considered. analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We postulate that alteration of normal fimction of the KEY WORDS: Congenital central hypoventilation receptor tyrosine kinase, RET, may contribute to syndrome, Hirschsprung disease, RET receptor CCHS based on RET’s expression pattern and the tyrosine kinase, mutation detection identification of RET mutations in HSCR patients. To fiuther explore the nature of the inheritance of CCHS, we have undertaken two main routes of INTRODUCTION investigation: cytogenetic analysis and mutation detectio