Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

Journal of Human Genetics

Volumn 50, Issue 4, 2005, Pages 168-174

  Wu, Trang Tiau ^a,b   Tsai, Tsui Wei ^b   Chu, Chao Ta ^b   Lee, Zen Fung ^c   Hung, Chuan Mao ^b   Su, Ching Chyuan ^b,d   Li, Shuan Yow ^b   Hsieh, Mingli ^b,e   Li, Chuan ^b  

^a CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c God's Help Hospital   (Taiwan)

^d TIAN SHENG MEMORIAL HOSPITAL   (Taiwan)

^e TUNGHAI UNIVERSITY   (Taiwan)

Author keywords

EDNRB; Hirschsprung disease (HSCR); Polymorphism; RET

Indexed keywords

ENDOTHELIN RECEPTOR; GENOMIC DNA; PROTEIN RET;

ALLELE; ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; TAIWAN;

CASE-CONTROL STUDIES; EXONS; FEMALE; GENE FREQUENCY; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MITOGENS; MUTATION; ONCOGENE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, ENDOTHELIN B; TAIWAN;

EID: 18844454777     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0236-x     Document Type: Article

References (36)

1. Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome. Nat Genet 4:351-356
2. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4:821-830
3. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 14:341-344
4. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4:1381-1386
5. Badner JA, Sieber WK, Garver KL, Chakravarti A (1990) Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. Am J Hum Genet 46:568-580
6. Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C (1999) Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36: 771-774
7. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernandez A, Wright FA, Antinolo G, Eng C (2000) RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37:572-578
8. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C (2003) A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72:88-100
9. Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM (2004) Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet 12: 604-612
10. Chattopadhyay P, Pakstis AJ, Mukherjee N, Iyengar S, Odunsi A, Okonofua F, Bonne-Tamir B, Speed W, Kidd JR, Kidd KK(2003) Global survey of haplotype frequencies and linkage disequilibrium at the RET locus. Eur J Hum Genet 11(10):760-769
11. Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attie T, Bachy B, Munnich A, Lyonnet S (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 7:1449-1452
12. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekete C, Ponder BA, Munnich, A (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378-380
13. Fitze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D (1999) Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 65: 1469-1473
14. Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK (2002) Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205
15. Fitze G, Appelt H, Konig IR, Gorgens H, Stein U, Walther W, Gossen M, Schreiber M, Ziegler A, Roesner D, Schackert HK (2003) Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 12:3207-3214
16. Frost G (1992) Hirschsprung disease in infants and children. Gastroenterol Nurs 15:45-48
17. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson, JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31:89-93
18. Garcia-Barcelo MM, Sham MH, Lui VC, Chen BL, Song YQ, Lee WS, Yung SK, Romeo G, Tam PK (2003) Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet 40:e122
19. Garcia-Barcelo M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK (2004) Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Clin Chem 50:93-100
20. Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Muntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A (2001) Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 48:671-675
21. Geneste O, Bidaud C, De Vita G, Hofstra RM, Tartare-Deckert S, Buys CH, Lenoir GM, Santoro M, Billaud, M (1999) Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multi-functional docking site. Hum Mol Genet 8: 1989-1999
22. Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
23. Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH (1999) A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64:304-308
24. Kusafuka T, Puri P (1998) Genetic aspects of Hirschsprung's disease. Semin Pediatr Surg 7:148-155
25. Lesser PB, El-Nahas AM, Lukl P, Andrews P, Schuler JG, Filtzer HS (1979) Adult-onset Hirschsprung's disease. Jama 242:747-748
26. Lorenzo MJ, Gish GD, Houghton C, Stonehouse TJ, Pawson T, Ponder BA, Smith DP (1997) RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2. Oncogene 14:763-771
27. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, Briard M., Mok-Siu V, Kaariainen H, Martucciello G, Lerone M (1993) A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4:346-350
28. Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173
29. Puffenberger EG, Hosoda K, Washington SS, Nakao K, de Wit D, Yanagisawa M, Chakravart A (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1257-1266
30. Reyna TM (1993) Hirschsprung's disease. J Pediatr Surg 28:1522-1523
31. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378
32. Sakai T, Nirasawa Y, Itoh Y, Wakizaka A (2000) Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies. Eur J Pediatr 159:160-167
33. Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G (1997) Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 9:243-9
34. Svensson PJ, Molander ML, Eng C, Anvret M, Nordenskjold A (1998) Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet 54:39-44
35. Takahashi M, Buma Y, Iwamoto T, Inaguma 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
36. Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 27:369-370