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Article: 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

TitleHighly 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
Authors
Issue Date2004
PublisherAmerican Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
Citation
Clinical Chemistry, 2004, v. 50 n. 1, p. 93-100 How to Cite?
AbstractBackground: Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. HSCR has a complex pattern of inheritance and is sometimes associated with mutations in genes of the receptor tyrosine kinase (RET) and endothelin receptor B (EDNRB) signaling pathways, which are crucial for development of the enteric nervous system. Methods: Using PCR amplification and direct sequencing, we screened for mutations and polymorphisms in the coding regions and intron/exon boundaries of the RET, GDNF, EDNRB, and EDN3 genes of 84 HSCR patients and 96 ethnically matched controls. Results: We identified 10 novel and 2 previously described mutations in RET, and 4 and 2 novel mutations in EDNRB and in EDN3, respectively. Potential disease-causing mutations were detected in 24% of the patients. The overall mutation rate was 41% in females and 19% in males (P = 0.06). RET mutations occurred in 19% of the patients. R114H in RET was the most prevalent mutation, representing 7% of the patients or 37% of the patients with RET mutations. To date, such a high frequency of a single mutation has never been reported in unrelated HSCR patients. Mutations in EDNRB, EDN3, and GDNF were found in four, two, and none of the patients, respectively. Two patients with mutations in genes of the EDNRB pathway also harbored a mutation in RET. Three novel and three reported polymorphisms were found in EDNRB, EDN3, and GDNF. Conclusion: This study identifies additional HSCR disease-causing mutations, some peculiar to the Chinese population, and represents the first comprehensive genetic analysis of sporadic HSCR disease in Chinese. © 2004 American Association for Clinical Chemistry.
Persistent Identifierhttp://hdl.handle.net/10722/92188
ISSN
2015 Impact Factor: 7.457
2015 SCImago Journal Rankings: 2.472
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, Men_HK
dc.contributor.authorSham, MHen_HK
dc.contributor.authorLee, WSen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorChen, BLSen_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorWong, JSWen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-09-17T10:38:40Z-
dc.date.available2010-09-17T10:38:40Z-
dc.date.issued2004en_HK
dc.identifier.citationClinical Chemistry, 2004, v. 50 n. 1, p. 93-100en_HK
dc.identifier.issn0009-9147en_HK
dc.identifier.urihttp://hdl.handle.net/10722/92188-
dc.description.abstractBackground: Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. HSCR has a complex pattern of inheritance and is sometimes associated with mutations in genes of the receptor tyrosine kinase (RET) and endothelin receptor B (EDNRB) signaling pathways, which are crucial for development of the enteric nervous system. Methods: Using PCR amplification and direct sequencing, we screened for mutations and polymorphisms in the coding regions and intron/exon boundaries of the RET, GDNF, EDNRB, and EDN3 genes of 84 HSCR patients and 96 ethnically matched controls. Results: We identified 10 novel and 2 previously described mutations in RET, and 4 and 2 novel mutations in EDNRB and in EDN3, respectively. Potential disease-causing mutations were detected in 24% of the patients. The overall mutation rate was 41% in females and 19% in males (P = 0.06). RET mutations occurred in 19% of the patients. R114H in RET was the most prevalent mutation, representing 7% of the patients or 37% of the patients with RET mutations. To date, such a high frequency of a single mutation has never been reported in unrelated HSCR patients. Mutations in EDNRB, EDN3, and GDNF were found in four, two, and none of the patients, respectively. Two patients with mutations in genes of the EDNRB pathway also harbored a mutation in RET. Three novel and three reported polymorphisms were found in EDNRB, EDN3, and GDNF. Conclusion: This study identifies additional HSCR disease-causing mutations, some peculiar to the Chinese population, and represents the first comprehensive genetic analysis of sporadic HSCR disease in Chinese. © 2004 American Association for Clinical Chemistry.en_HK
dc.languageengen_HK
dc.publisherAmerican Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.orgen_HK
dc.relation.ispartofClinical Chemistryen_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshChinaen_HK
dc.subject.meshEndothelin-3 - metabolismen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshGerm-Line Mutationen_HK
dc.subject.meshGlial Cell Line-Derived Neurotrophic Factoren_HK
dc.subject.meshHirschsprung Disease - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMutationen_HK
dc.subject.meshNerve Growth Factors - geneticsen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshReceptor Protein-Tyrosine Kinases - geneticsen_HK
dc.subject.meshReceptors, Endothelin - geneticsen_HK
dc.subject.meshRecurrenceen_HK
dc.subject.meshSignal Transduction - geneticsen_HK
dc.titleHighly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Diseaseen_HK
dc.typeArticleen_HK
dc.identifier.emailGarciaBarceló, M: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailSham, MH: mhsham@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailWong, KKY: kkywong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, M=rp00445en_HK
dc.identifier.authoritySham, MH=rp00380en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityWong, KKY=rp01392en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1373/clinchem.2003.022061en_HK
dc.identifier.pmid14633923-
dc.identifier.scopuseid_2-s2.0-1642574220en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1642574220&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume50en_HK
dc.identifier.issue1en_HK
dc.identifier.spage93en_HK
dc.identifier.epage100en_HK
dc.identifier.isiWOS:000188216900009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridGarciaBarceló, M=6701767303en_HK
dc.identifier.scopusauthoridSham, MH=7003729109en_HK
dc.identifier.scopusauthoridLee, WS=7407084160en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridChen, BLS=7408607939en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridWong, JSW=55259145200en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK

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