Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249

Journal of Medical Genetics

Volumn 42, Issue 4, 2005, Pages 322-327

  Fernandez, R M ^a   Boru, G ^b   Pecina A ^a   Jones, K ^b   Lopez Alonso M ^a   Antinolo G ^a   Borrego, Salud ^a   Eng, C ^b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; PROTEIN RET;

ARTICLE; CHROMOSOME BREAKAGE; CONTROLLED STUDY; EXON; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTO ONCOGENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION SITE;

CASE-CONTROL STUDIES; CELLS, CULTURED; COHORT STUDIES; EXONS; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); TRANSFECTION;

EID: 17144373665     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.023960     Document Type: Article

References (21)

1. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol 1999;17:380-93.
2. Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, Ponder BAJ, Lyonnet S. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995;4:1381-6.
3. Angrist M, Bolk S, Thiel B, Puffenberger, Hofstra RM, Buys CH, Cass DT, Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 1995;4:821-30.
4. Svensson PJ, Molander JL, Eng C, Anvret M, Nordenskjöld A. Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet 1998;54:39-44.
5. Chakravarti A, Lyonnet S. Hirschsprung Disease. In: Scriver CS, et al. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2002:6231-55.
6. 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. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 2001;27:369-70.
7. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-61.
8. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 2000;97:268-73.
9. 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. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002;31:89-93.
10. Borrego S, Eng C, Sánchez B, Sáez ME, Navarro E, Antiñolo G. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 1998;83:3361-4.
11. Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 1999;36:771-4.
12. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernandez A, Wright FA, Antinolo G, Eng C. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 2000;37:572-8.
13. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C. A founding locus within the RET protooncogene 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 2003;72:88-100.
14. Fitze G, Appelt H, Konig IR, Gorgens H, Stein U, Walther W, Gossen M, Schreiber M, Ziegler A, Roesner D, Schackert HK. Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 2003;12:3207-14.
15. Soncandi M, Griseri P, Pesce B, Patrone G, Puppo F, Lerone M, Martucciello G, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet 2003;40:714-18.
16. Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CHCM, Hofstra RMW. 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 2004;12:604-12.
17. Borrego S, Fernandez RM, Dziema H, Niess A, Lopez-Alonso M, Antinolo G, Eng C. Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. J Med Genet 2003;40:e18.
18. In: Dracopoli NH, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR, eds. Current protocols in human genetics. New York: John Wiley and Sons, 1994.
19. Filze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D. Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 1999;65:1469-73.
20. Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease. Am J Hum Genet 2002;71:969-74.
21. Garcia-Barcelo MM, Sham MH, Lui VC, Chen BL, Song YQ, Lee WS, Yung SK, Romeo G, Tam PK. Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet 2003;40:e122.