RET mutational spectrum in Hirschsprung disease: Evaluation of 601 Chinese patients

PLoS ONE

Volumn 6, Issue 12, 2011, Pages

  So, Man Ting ^a   LeonThomas, Thomas Yuk Yu ^a   Cheng, Guo ^a   TangClara, Clara Sze Man ^a   Miao, Xiao Ping ^b   Cornes, Belinda K ^a   Ngo, Diem Ngoc ^k   Cui, Long ^a   NganElly, Elly Sau Wai ^a   LuiVincent, Vincent Chai Hang ^a   Wu, Xuan Zhao ^c   Wang, Bin ^d   Wang, Hualong ^e   Yuan, Zheng Wei ^f   Huang, Liu Ming ^g   Li, Long ^h   Xia, Huimin ⁱ   Zhu, Deli ⁱ   Liu, Juncheng ^j   Nguyen, Thanh Liem ^k   ChanIvy, Ivy Hau Yee ^a   ChungPatrick, Patrick Ho Yu ^a   Liu, Xue Lai ^a   Zhang, Ruizhong ^a   WongKenneth, Kenneth Kak Yuen ^a   Sham, Pak Chung ^a   Cherny, Stacey S ^a   TamPaul, Paul Kwong Hang ^a   Garcia Barcelo, Maria Mercè ^a   more..

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c GUIZHOU MEDICAL UNIVERSITY   (China)

^d SHENZHEN CHILDREN'S HOSPITAL   (China)

^e Changchun Children's Hospital   (China)

^f CHINA MEDICAL UNIVERSITY   (China)

^g Children Hospital   (China)

^h CAPITAL INSTITUTE OF PEDIATRICS   (China)

ⁱ Guangzhou Women and Children's Medical Centre   (China)

^j THE FIRST AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^k NATIONAL HOSPITAL OF PEDIATRICS   (Viet Nam)

more..

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; ARTICLE; CHINESE; CONTROLLED STUDY; DNA MODIFICATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE CLUSTER; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; RET GENE; RNA SPLICING; SEQUENCE ANALYSIS; SILENT GENE; ASIAN; CHINA; CLASSIFICATION; EVALUATION; GENETIC PREDISPOSITION; GENETICS; MUTATION; OPEN READING FRAME;

PROTEIN RET;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; EVALUATION STUDIES AS TOPIC; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HUMANS; MUTATION; OPEN READING FRAMES; PROTO-ONCOGENE PROTEINS C-RET;

EID: 83055178223     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0028986     Document Type: Article

References (27)

1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, et al. (2008) Hirschsprung disease, associated syndromes and genetics: a review. J MedGenet 45: 1-14.
2. Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, et al. (2010) Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87: 60-74.
3. Manie S, Santoro M, Fusco A, Billaud M, (2001) The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet 17: 580-589.
4. Cornes BK, Tang CS, Leon TY, Hui KJ, So MT, et al. (2010) Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population. PLoS One 5: e10918.
5. Pelet A, Geneste O, Edery P, Pasini A, Chappuis S, et al. (1998) Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. JClinInvest 101: 1415-1423.
6. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, et al. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. HumMolGenet 4: 1381-1386.
7. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, et al. (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 378-380.
8. Seri M, Yin L, Barone V, Bolino A, Celli I, et al. (1997) Frequency of RET mutations in long- and short-segment Hirschsprung disease. HumMutat 9: 243-249.
9. Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, et al. (2000) RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. HumMutat 15: 418-429.
10. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, et al. (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. ProcNatlAcadSciUSA 97: 268-273.
11. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, et al. (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. NatGenet 31: 89-93.
12. Garcia-Barcelo M, Sham MH, Lee WS, Lui VC, Chen BL, et al. (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. ClinChem 50: 93-100.
13. Iwashita T, Kurokawa K, Qiao S, Murakami H, Asai N, et al. (2001) Functional analysis of RET with Hirschsprung mutations affecting its kinase domain. Gastroenterology 121: 24-33.
14. Iwashita T, Murakami H, Asai N, Takahashi M, (1996) Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain. HumMolGenet 5: 1577-1580.
15. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, et al. (2005) A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434: 857-863.
16. Garcia-Barcelo MM, Sham MH, Lui VC, Chen BL, Song YQ, et al. (2003) Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J MedGenet 40: e122.
17. Garcia-Barcelo M, Ganster RW, Lui VC, Leon TY, So MT, et al. (2005) TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. HumMolGenet 14: 191-204.
18. Miao X, Leon TY, Ngan ES, So MT, Yuan ZW, et al. (2010) Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease. Hum Mol Genet 19: 1461-1467.
19. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB, (2010) Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294.
20. Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, et al. (2009) Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. ProcNatlAcadSciUSA 106: 2694-2699.
21. Won HH, Kim HJ, Lee KA, Kim JW, (2008) Cataloging coding sequence variations in human genome databases. PLoS One 3: e3575.
22. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, et al. (2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41: 535-543.
23. Sauna ZE, Kimchi-Sarfaty C, (2011) Understanding the contribution of synonymous mutations to human disease. Nat Rev Genet 12: 683-691.
24. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, et al. (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37: e67.
25. Pedersen JS, Bejerano G, Siepel A, Rosenbloom K, Lindblad-Toh K, et al. (2006) Identification and classification of conserved RNA secondary structures in the human genome. PLoS Comput Biol 2: e33.
26. Pupko T, Bell RE, Mayrose I, Glaser F, Ben-Tal N, (2002) Rate4Site: an algorithmic tool for the identification of functional regions in proteins by surface mapping of evolutionary determinants within their homologues. Bioinformatics 18 (Suppl 1): S71-77.
27. Glaser F, Pupko T, Paz I, Bell RE, Bechor-Shental D, et al. (2003) ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information. Bioinformatics 19: 163-164.