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

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 63, Issue 4, 1996, Pages 603-609

  Bolk, Stacey ^a   Angrist, Misha ^a   Schwartz, Stuart ^a   Silvestri, Jean M ^b   Weese Mayer, Debra E ^b   Chakravarti, Araviada ^a  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b RUSH MEDICAL COLLEGE   (United States)

Author keywords

Congenital central hypoventilation syndrome; Hirschsprung disease; Mutation detection; RET receptor tyrosine kinase

Indexed keywords

PROTEIN TYROSINE KINASE;

ADULT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPOVENTILATION; MAJOR CLINICAL STUDY; MALE; METAPHASE CHROMOSOME; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME;

CHILD; DROSOPHILA PROTEINS; HUMANS; HYPOVENTILATION; KARYOTYPING; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SLEEP APNEA SYNDROMES;

EID: 0030014485     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M     Document Type: Article

References (54)

1. 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.
2. 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.
3. Badner J, Seiber W, Garver K, Chakravarti A (1990): A genetic study of Hirschsprung disease. Am J Hum Genet 46:568-580.
4. Baynash A, Hosoda K, Giaid A, Richardson J, Emoto N, Hammer R, Yanagisawa M (1994): Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79:1277-1285.
5. Bolande R (1974): The neurocristopathies. Hum Pathol 5:409-429.
6. Bower R, Adkins J (1980): Ondine's curse and neurocristopathy. Clin Pediatr 19:665-668.
7. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA Jr, Goodfellow PJ, Donis-Keller H (1994): Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 91:1579-1583.
8. Ceccherini I, Bocciardi R, Luo Y, Pasini B, Hofstra R, Takahashi M, Romeo G (1993): Exon structure and flanking intronic sequences of the human RET proto-oncogene. Biochem Biophys Res Commun 196:1288-1295.
9. Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetto P, Pasini B, Bozzano M, Buys CHCM, Romeo G (1994): DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret protooncogene. Oncogene 9:3025-3029.
10. Coleman M, Boros SJ, Huseby TL, Brennom WS (1980): Congenital central hypoventilation syndrome. Arch Dis Child 55:901-903.
11. Cotton R (1993): Current methods of mutation detection. Mut Res 285:125-144.
12. Dausset J (1986): Le Centre d'Etude du Polymorphisme Humain. Presse Méd 15:1801-1802.
13. Deonna T, Arczynska W, Torrado A (1974): Congenital failure of automatic ventilation (Ondine's curse). J Pediatr 84:710-714.
14. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr (1993): Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum Molec Genet 2:851-856.
15. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Dow E, Holder S, Nihoul-Fekete C, Ponder BA, Munnich A (1994): Mutations of the RET proto-oncogene in Hirschsprung disease. Nature 367:378-380.
16. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GF, Jackson CE, Tunnacliffe A, Bonder BAJ (1994): Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Molec Genet 3:237-241.
17. Fleming PJ, Cade D, Bryan MH, Bryan AC (1980): Congenital central hypoventilation and sleep state. Pediatrics 66:425-428.
18. Guilleminault C, McQuitty J, Ariagno R, Challamel MJ, Korobkin R, McLead RE Jr (1982): Congenital central alveolar hypoventilation syndrome in six patients. Pediatrics 70:684-694.
19. Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MAF, Epstein RA, Mellins RB (1978): Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine 57:517-526.
20. Hamilton J, Bodurtha JN (1989): Congenital central hypoventilation syndrome and Hirschsprung disease in half-sibs. J Med Genet 26:272-279.
21. Hofstra RMW, Landsvater R, Ceccherini I, Stupl RP, Stelwagen T, Luo Y, Pasini B, Hoppener J, van Amstel H, Romeo G, Lips C, Buys CHCM (1994): A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375-376.
22. Hosoda K, Hammer R, Richardson J, Baynash A, Cheung J, Giaid A, Yanagisawa M (1994): Targeted and natural (Piebald-lethal) mutations of endothelin-B receptor gene produces megacolon associated with spotted coat color in mice. Cell 79:1267-1276.
23. Hunt CE, Matalon SV, Thompson TR, Demuth S, Loew JM, Liu HM, Mastri A, Burke B (1978): Central hypoventilation syndrome. Am Rev Respir Dis 118:23-28.
24. Itoh F, Ishizaka Y, Tahira T, Yamamoto M, Miya A, Imai K, Yachi A, Takai S, Sugimura T, Nagao M (1992): Identification and analysis of the ret proto-oncogene promoter region in neuroblastoma cell lines and medullary thyroid carcinomas from MEN2A patients. Oncogene 7:1201-1206.
25. Khalifa MM, Flavin MA, Wherett BA (1988): Congenital central hypoventilation syndrome in monozygotic twins. J Pediatr 113:853-855.
26. Kwok JB, Gardner E, Warner JP, Ponder BA, Mulligan LM (1993): Structural analysis of the human ret proto-oncogene using exontrapping. Oncogene 8:2575-2582.
27. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, Briard ML, Mok Sui V, Kääriäinen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G (1993): A gene for Hirschsrung disease maps to the proximal long arm of chromosome 10. Nature Genet 4:346-350.
28. Mellins RB, Balfour HH Jr, Turino GM, Winters RW (1970): Failure of automatic control of ventilation (Ondine's curse). Medicine 49:487-504.
29. Miller SA, Dykes DD, Polesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
30. Minutillo C, Pemberton PJ, Goldblatt J (1989): Hirschsprung's disease and Ondine's curse: Further evidence for a distinct syndrome. Clin Genet 36:200-203.
31. Moorhead P, Nowell P, Mellman W, Battips D, Hungerford D (1960): Chromosome preparation of leukocytes cultured from human peripheral blood. Exp Cell Res 20:613-616.
32. Mulligan LM, Eng C, Healy C, Clayton D, Kwok J, Gardner E, Ponder M, Frilling A, Jackson C, Lehnert H, Heumann H, Thibodeau S, Ponder B (1994): Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN2A and FMTC. Nature Genet 6:70-74.
33. Mulligan L, Kwok JBJ, Healy CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ (1993): Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460.
34. O'Dell K, Staren E, Bassuk A (1987): Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse). J Pediatr Surg 22:1019-1020.
35. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989a): Detection of polymorphisms of human DNA by gel electrophoresis as single-stand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
36. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989b) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
37. Pachnis V, Mankoo B, Costantini F (1993): Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119:1005-1017.
38. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanigisawa M, Chakravarti A (1994b): A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease. Cell 79:1257-1266.
39. Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, Slaugenhaupt SA, Chakravarti A (1994a): Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Molec Genet 3:1217-1225.
40. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Passini B, Bocciardi R, Lerone M, Kääriäinen H, Martiucciello G (1994): Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung disease. Nature 367:377-378.
41. Schuchardt A, D'Agayi V, Larsson-Blomberb L, Costanini F, Pachnis V (1994): Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367:380-383.
42. Seabright M (1971): A rapid banding technique for human chromosomes. Lancet 2:971-972.
43. Shannon DC, Marsland DW, Gould JB, Callahan B, Todres ID, Dennis J (1976): Central hypoventilation syndrome during quiet sleep in two infants. Pediatrics 57:342-346.
44. Stern M, Hellwege HH, Gravinghoff L, Lambrecht W (1981): Total aganglionosis of the colon (Hirschsprung disease) and congenital failure of automatic control of ventilation (Ondine's curse). Acta Paediatr Scand 70:121-124.
45. Swaminathan S, Gilsanz V, Atkinson J, Keens TG (1989): Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. Chest 96:423-424.
46. Takahashi M, Burma Y, Hiai H (1989): Isolation of ret proto-oncogene cDNA with an aminoterminal signal sequence. Oncogene 4:805-806.
47. Takahashi M, Burma Y, Iwamoto T, Inmaguma Y, Ikeda H, Hiai H (1988): Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3:571-578.
48. Takahashi M, Ritz J, Cooper G (1985): Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 42:581-588.
49. Vidal-Puig A, Moller DE (1994): Comparative sensitivity of alternative single-strand conformational polymorphism (SSCP) methods. BioTechniques 17:490-496.
50. Weese-Mayer DE, Brouillette RT, Naidich TP, McLone DG, Hunt CD (1988): Magnetic resonance imaging and computerized tomography in central hypoventilation. Am Rev Respir Dis 137:393-398.
51. Weese-Mayer DE, Silvestri JM, Marazita ML, Hoo JJ (1993): Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome. Am J Med Genet 47:360-367.
52. Weese-Mayer DE, Silvestri JM, Menzies LJ, Morrow-Kenny AS, Hunt CE, Hauptman SA (1992): Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children. J Pediatr 120:381-387.
53. Wells HH, Kattwinkel J, Morrow JD (1980): Control of ventilation in Ondine's curse. J Pediatr 96:865-867.
54. Woo MS, Woo MA, Gozal D, Jansen MT, Keens TG, Harper RM (1992): Heart rate variability in congenital central hypoventilation syndrome. Pediatr Res 31:291-296.