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Article: Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations

TitleScreening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
Authors
KeywordsProtein Ret
Amino acid substitution
Controlled study
Gene sequence
Genetic association
Issue Date2012
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
Citation
Journal of Pediatric Surgery, 2012, v. 47 n. 10, p. 1859-1864 How to Cite?
AbstractBACKGROUND/PURPOSE: Hirschsprung disease (HSCR; megacolon, congenital aganglionosis) is a congenital disorder characterized by the absence of ganglion cells along variable segments of the gut. Both rare (RV) and common variants of the RET gene are associated with HSCR. The aim of this study is to assess, for the first time, the variation in the RET gene of Vietnamese HSCR patients. METHODS: We used Sanger sequencing to screen the coding sequence of the RET gene of 97 Vietnamese HSCR patients of Southern Chinese ancestry. The healthy population consisted of 250 Southern Chinese individuals with no diagnosis of HSCR. RESULTS: We detected 8 heterozygous RVs distributed among 13 patients (13.40%) and that were not present in healthy individuals. Among those variants, there were 2 novel and deleterious (R133C [c.397 C>T]; R144C [c.430 C>T]) missense amino acid substitutions, 2 novel silent variants (P667P [c.2001 A>T]; Y809Y [c.2427 C>T]), and 4 previously described missense substitutions (R114H [c.341 G>A]; V292M [c.874 G>A]; G533S [c.1597 G>A]; R982C [c.2944 C>T]). As expected, the common RET coding sequence variants rs1800858 (A45A [c.135 G>A]) and rs1800861 (L769L [c.2307 T>G]) were highly associated with the disease. CONCLUSIONS: The identification of novel deleterious variants together with the fact RET RVs are virtually unique to HSCR patients indicates that the RET gene is a target for mutations among Hirschsprung patients of any population.
Persistent Identifierhttp://hdl.handle.net/10722/174145
ISSN
2015 Impact Factor: 1.733
2015 SCImago Journal Rankings: 0.802
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorNgo, DNen_US
dc.contributor.authorSo, MTen_US
dc.contributor.authorGui, Hen_US
dc.contributor.authorTran, AQen_US
dc.contributor.authorBui, DHen_US
dc.contributor.authorCherny, Sen_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorNguyen, TLen_US
dc.contributor.authorGarcia-Barcelo, MMen_US
dc.date.accessioned2012-11-16T03:36:30Z-
dc.date.available2012-11-16T03:36:30Z-
dc.date.issued2012en_US
dc.identifier.citationJournal of Pediatric Surgery, 2012, v. 47 n. 10, p. 1859-1864en_US
dc.identifier.issn0022-3468en_US
dc.identifier.urihttp://hdl.handle.net/10722/174145-
dc.description.abstractBACKGROUND/PURPOSE: Hirschsprung disease (HSCR; megacolon, congenital aganglionosis) is a congenital disorder characterized by the absence of ganglion cells along variable segments of the gut. Both rare (RV) and common variants of the RET gene are associated with HSCR. The aim of this study is to assess, for the first time, the variation in the RET gene of Vietnamese HSCR patients. METHODS: We used Sanger sequencing to screen the coding sequence of the RET gene of 97 Vietnamese HSCR patients of Southern Chinese ancestry. The healthy population consisted of 250 Southern Chinese individuals with no diagnosis of HSCR. RESULTS: We detected 8 heterozygous RVs distributed among 13 patients (13.40%) and that were not present in healthy individuals. Among those variants, there were 2 novel and deleterious (R133C [c.397 C>T]; R144C [c.430 C>T]) missense amino acid substitutions, 2 novel silent variants (P667P [c.2001 A>T]; Y809Y [c.2427 C>T]), and 4 previously described missense substitutions (R114H [c.341 G>A]; V292M [c.874 G>A]; G533S [c.1597 G>A]; R982C [c.2944 C>T]). As expected, the common RET coding sequence variants rs1800858 (A45A [c.135 G>A]) and rs1800861 (L769L [c.2307 T>G]) were highly associated with the disease. CONCLUSIONS: The identification of novel deleterious variants together with the fact RET RVs are virtually unique to HSCR patients indicates that the RET gene is a target for mutations among Hirschsprung patients of any population.-
dc.languageengen_US
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurgen_US
dc.relation.ispartofJournal of Pediatric Surgeryen_US
dc.subjectProtein Ret-
dc.subjectAmino acid substitution-
dc.subjectControlled study-
dc.subjectGene sequence-
dc.subjectGenetic association-
dc.titleScreening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutationsen_US
dc.typeArticleen_US
dc.identifier.emailSo, MT: jaymtso@hku.hken_US
dc.identifier.emailCherny, S: cherny@hku.hken_US
dc.identifier.emailTam, PKH: paultam@hku.hken_US
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hken_US
dc.identifier.authorityCherny, SS=rp00232en_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.jpedsurg.2012.05.020-
dc.identifier.pmid23084198-
dc.identifier.scopuseid_2-s2.0-84867540471-
dc.identifier.hkuros212376en_US
dc.identifier.volume47en_US
dc.identifier.issue10en_US
dc.identifier.spage1859en_US
dc.identifier.epage1864en_US
dc.identifier.isiWOS:000310777300029-
dc.publisher.placeUnited Statesen_US

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