Hirschsprung disease in MEN 2A: Increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation

Human Molecular Genetics

Volumn 7, Issue 1, 1998, Pages 129-134

  Decker, Ruth A ^a   Peacock, Michael L ^a   Watson, Patrice ^b  

^a Decker Foundation   (United States)

^b CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE RECEPTOR; TYROSINE KINASE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; CONTROLLED STUDY; DOMINANT INHERITANCE; EXON; FEMALE; GENE ACTIVATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; ONCOGENE; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE; SIPPLE SYNDROME;

BASE SEQUENCE; DROSOPHILA PROTEINS; FEMALE; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0031964670     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.1.129     Document Type: Article

References (36)

1. Mulligan,L.M., Kwok,J.B.J., Healey,C.S., Elsdon,M.J., Eng,C, Gardner,E., Love,D.R., Mole,S.E., Moore,J.K., Papi,L., Ponder,M.A., Telenius,H., Tunnacliffe,A. and Ponder,B.A.J. (1993) Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2a (MEN 2A). Nature, 363, 458-460.
2. Donis-Keller,H., Dou,S., Chi,D., Carlson,K.M., Toshima,K., Lairmore,T.C., Howe,J.R., Moley,J.K, Goodfellow,P.J. and Wells,S.A.,Jr (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Mol. Genet., 2, 851-856.
3. Hofstra,R.M.W., Landsvater,R.M., Ceccherine,I., Stulp,R.R, Stelwagen,T., Luo,Y., Pasine,B., Hoppener,J.W.M., van Amstel,H.K.R, Romeo,G., Lips,C.J.M. and Buys,C.H.C.M. (1994) A mutation in the RET proto-oncogene asscociated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
4. Eng,C., Smith,D.P., Mulligan,L.M., Nagai,M.A., Healey,C.S., Ponder,M.A., Gardner,E., Scheumann,G.F.W., Jackson,C.E., Tunnacliffe,A. and Ponder,B.A.J. (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadíc-tumors. Hum. Mol. Genet., 3, 237-241.
5. Carlson,K.M., Dou,S., Chi,D., Scarvarda,N., Toshima,K., Jackson,C.E., Wells,S.A.,Jr, Goodfellow,P.J. and Donis-Keller,H. (1994) Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc. Natl Acad. Sci. USA, 91, 1579-1583.
6. Romeo,G., Ronshetto,P, Luo,Y., Barone,V., Seri,M., Ceccherine,I., Pasini,B., Bocclardl,R., Lerone,M., Kaarlainen,H. and Martucciello,G. (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 377-378.
7. Edery,P. Lyonnet,S., Mulligan,L.M., Pelet,A., Dow,E., Abel,L., Holder,S., Nihoul-Fekete,C., Ponder,B.A.J. and Munnich,A. (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 378-380.
8. Attie,T, Pelet,A., Edery,P., Eng,C, Mulligan,L.M., Amiel,J., Boutrand,L., Beldjord,C., Nihoul-Fekete,C., Munnich,A., Ponder,B.A.J. and Lyonnet,S. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet., 4, 1381-1386.
9. Komminoth,P., Kunz,E.K., Matais-Guiu,X., Hiort,O., Christiansen,G., Colomer,A., Roth,J. and Heitz,P.U. (1995) Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer, 76, 479-489.
10. Eng,C., Smith,D.P., Mulligan,L.M., Healey,C.S., Zvelebil,M.J., Stone-house,T.J., Ponder,M.A., Jackson,C.E., Waterfield,M.C. and Ponder,B.A.J. (1995) A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogens, 10, 509-513.
11. Bolino,A., Schuffenecker,I., Luo,Y., Seri,M., Silengo,M., Tocco,T., Chabrier,G., Houdent,C., Murat,A., Schlumberger,M., Tourniaire,J., Lenoir,G.M. and Romeo,G. (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene, 10, 2415-2419.
12. Decker,R.A. and Peacock,M.L. (1997) Update on the profile of multiple endocrine neoplasia type 2a RET mutations. Cancer, 80, 557-568.
13. Asai,N., Iwashita,T., Matsuyuma,M. and Takahashi,M. (1995) Mechanism of activation of the ret proto-oncogene by multiple endocrine type 2a mutations. Mol. Cell. Biol., 15, 1613-1619.
14. Santoro,M., Carlomagno,F., Roman,A., Bottaro,D.P., Dathan,N.A., Grieco,M., Fusco,A., Vecchio,G., Matoskova,B., Kraus,M.H. and Di Fiore,P.P. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science, 267, 381-383.
15. Ehrenpreis,T. (1970) Hirschsprung's Disease. Year Book Medical Publishers, Chicago, IL.
16. Iwashita,T., Murakami,H., Asai,N. and Takahashi,M. (1996) Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain. Hum. Mol. Genet., 5, 1577-1580.
17. Puffenberger,E.G., Hosoda,K., Washington,S.S., Nakao,K., de Wit,D., Yanagisawa,M. and Chakravarti,A. (1994) A missense mutation of the endothelin-B-receptor gene in multigenic Hirschsprung's disease. Cell, 79, 1257-1266.
18. Edery,P., Attie.P., Amiel,J., Pelet,A., Eng,C., Hofstra,R.M.W., Martelli,H., Bidaud,C., Munnich,A. and Lyonnet,S. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (shah-Waardenburg syndrome). Nature Genet., 12, 442-444.
19. Hofstra,R.M.W., Osinga,J., Tan-Sindhunala,G., Wu,Y. Kamsteeg,E.J., Stulp,R.P., Ravenswaaij-Arts.C., Majoor-Krakauer,D., Angrist,M. and Chakravarti,A. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (shah-Waardenburg syndrome). Nature Genet., 12, 445-447.
20. Verdy,M., Weber,A.M., Roy,C.C, Morin,C.L., Cadotte,M. and Brochu,P. (1982) Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J. Pediatr. Gastroenterol. Nutr., 1, 603-607.
21. Mulligan,L.M., Eng,C., Attie,T, Lyonnet,S., Marsh,D.J., Hyland,V.J., Robinson, B.G., Frilling,A., Verellen-Dumoulin,C., Safar,A., Venter,D.J., Munnich,A. and and Ponder,B.A.J. (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum. Mol. Genet., 3, 2163-2167.
22. Borst,M.J., VanCamp,J.M., Peacock,M.L. and Decker,R.A. (1995) Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery, 117, 386-391.
23. Mulligan,L.M. Eng,C., Healey,C.S., Clayton,D., Kwok,J.B.J., Gardner,E., Ponder,M.A., Frilling,A., Jackson,C.E., Lehnert,H., Neumann,H.P.H., Thibodeau,S.N. and Ponder,B.A.J. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet., 6, 70-74.
24. Eng,C., Clayton,D., Schuffenecker,I., Lenoir,G., Cote,G., Gagel,R.F., van Amstel,H.K.P., Lips,C.J.M., Nishisho,I., Takai,S., Marsh,D.J., Robinson,B.G., Frank-Raue,K., Raue,F., Xue,F., Knoll,W.W., Romei,C., Pacini,F., Fink,M., Niederle,B., Zedenius,J., Nordenskjold,M., Komminoth,P., Hendy,G.N., Gharib,H., Thibodeau,S.N., Lacroix,A., Frilling,A., Ponder,B.A.J. and Mulligan,L.M. (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neopalsia type 2. J. Am. Med. Ass., 276, 1575-1579.
25. Ito,S., Iwashita,T., Asai,N., Murakami,H., Iwata,Y., Sobue,G. and Takahashi,M. (1997) Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res., 57, 2870-2872.
26. Carlomagno,F., De Vita,G., Berlingieri,M.T., de Franciscis,V., Melello,R.M., Colantuoni,V., Kraus,M.H., Di Fiore,P.P., Fusco,A. and Santoro,M. (1996) Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J., 15, 2717-2725.
27. Caron,P., Attie,T, David,D., Amiel,J., Brousset,F., Roger,P., Munnich,A. and Lyonnet,S. (1996) C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2 A and Hirschsprang's disease. J Clin. Endocrinol. Metab., 81, 2731-2733.
28. Blank,R.D., Sklar,C.A., Dimich,A.B., LaQuaglia,M.P. and Brennan,M. (1996) Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. Cancer, 78, 1996-2003.
29. Peretz,H., Luboshitsky,R., Baron,E., Biton,A., Gershoni,R., Usher,S., Grynberg,E., Yakobson,E., Graff,E. and Lapidot,M. (1997) Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. Hum. Mutat., 10, 155-159.
30. Attie,T., Pelet,A., Edery,P., Eng,C., Mulligan,L.M., Amiel,J., Boutrand,L., Beldjord,C., Nihoul-Fekete,C., Munnich,A., Ponder,B.A.J. and Lyonnet,S. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol. Genet., 4, 1381-1386.
31. Angrist,M., Bolk,S., Thiel,B., Puffenberger,E.G., Hofstra,R.M., Buys,C.H.C.M., Cass,D.T. and Chakravarti,A. (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet., 4, 821-830.
32. Peacock,M.L., Borst,M.J., Sweet,J.D. and Decker,R.A. (1996) Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis. Hum. Mutat., 7, 100-104.
33. Lerman,L. and Silverstein,K. (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol., 155, 482-501.
34. Decker,R.A., Ponder,B.A., Mole,S.E. and Weber,J.L. (1992) Dinulceotide repeat polymorphisms at the D10S183 and D10S245 loci. Hum. Mol. Genet., 1, 777.
35. Decker,R.A. and Collins,F.S. (1993) Dinucleotide repeat polymorphism at the D10S469 locus. Hum. Mol.Genet., 2, 1443.
36. Lairmore,T.C. ,Dou,S., Howe,J.R., Chi,D., Carlson,K., Veile,R., Mishra,S.K., Wells,S.A. and Donis-Keller,H. (1993) A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN 2A locus. Proc. Natl Acad. Sci. USA, 90, 492-496.