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Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase RET

1996; Wiley; Volume: 63; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19960628)63

1096-8628

Stacey Bolk, Misha Angrist, Stuart Schwartz, Jean M. Silvestri, Debra E. Weese‐Mayer, Aravinda Chakravarti,

Neonatal Respiratory Health Research

American Journal of Medical GeneticsVolume 63, Issue 4 p. 603-609 Rapid Publication Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase RET Stacey Bolk, Stacey Bolk Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorMisha Angrist, Misha Angrist Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorStuart Schwartz, Stuart Schwartz Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorJean M. Silvestri, Jean M. Silvestri Department of Pediatrics, Rush Medical College of Rush University, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Chicago, IllinoisSearch for more papers by this authorDebra E. Weese-Mayer, Corresponding Author Debra E. Weese-Mayer Department of Pediatrics, Rush Medical College of Rush University, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Chicago, IllinoisRush Medical College of Rush University, Pediatric Respiratory Medicine, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, 1653 West Congress Parkway, Chicago, IL 60612Search for more papers by this authorAravinda Chakravarti, Aravinda Chakravarti Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this author Stacey Bolk, Stacey Bolk Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorMisha Angrist, Misha Angrist Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorStuart Schwartz, Stuart Schwartz Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this authorJean M. Silvestri, Jean M. Silvestri Department of Pediatrics, Rush Medical College of Rush University, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Chicago, IllinoisSearch for more papers by this authorDebra E. Weese-Mayer, Corresponding Author Debra E. Weese-Mayer Department of Pediatrics, Rush Medical College of Rush University, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Chicago, IllinoisRush Medical College of Rush University, Pediatric Respiratory Medicine, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, 1653 West Congress Parkway, Chicago, IL 60612Search for more papers by this authorAravinda Chakravarti, Aravinda Chakravarti Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OhioSearch for more papers by this author First published: 28 June 1996 https://doi.org/10.1002/(SICI)1096-8628(19960628)63:4 3.0.CO;2-MCitations: 38AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Abstract Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We postulate that alteration of normal function of the receptor tyrosine kinase, RET, may contribute to CCHS based on RET's expression pattern and the identification of RET mutations in HSCR patients. To further explore the nature of the inheritance of CCHS, we have undertaken two main routes of investigation: cytogenetic analysis and mutation detection. Cytogenetic analysis of metaphase chromosomes showed normal karyotypes in 13 of the 14 evaluated index cases; one index case carried a familial pericentric inversion on chromosome 2. Mutation analysis showed no sequence changes unique to index cases, as compared to control individuals, and as studied by single strand conformational polymorphism (SSCP) analysis of the coding region of RET. We conclude that point mutations in the RET coding region cannot account for a substantial fraction of CCHS in this patient population, and that other candidate genes involved in neural crest cell differentiation and development must be considered. © 1996 Wiley-Liss, Inc. References Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra R, Buys H, Cass, D, Chakravarti A, (1995): Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Molec Genet 4: 821–830. Angrist M, Kauffman ER, Slaugenhaupt S, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass D, Reyna T, Weeds D, Seiber W, Chakravarti A, (1993): A gene for Hirschsprung disease megacolon in the pericentromeric region of chromosome 10. Nature Genet 4: 351–356. 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