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Article: Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
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TitleScreening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
 
AuthorsNgo, DN3
So, MT2
Gui, H2
Tran, AQ3
Bui, DH3
Cherny, S2 1
Tam, PKH2
Nguyen, TL3
Garcia-Barcelo, MM3
 
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
 
CitationJournal of Pediatric Surgery, 2012, v. 47 n. 10, p. 1859-1864 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.jpedsurg.2012.05.020
 
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.
 
ISSN0022-3468
2013 Impact Factor: 1.311
2013 SCImago Journal Rankings: 0.811
 
DOIhttp://dx.doi.org/10.1016/j.jpedsurg.2012.05.020
 
ISI Accession Number IDWOS:000310777300029
 
DC FieldValue
dc.contributor.authorNgo, DN
 
dc.contributor.authorSo, MT
 
dc.contributor.authorGui, H
 
dc.contributor.authorTran, AQ
 
dc.contributor.authorBui, DH
 
dc.contributor.authorCherny, S
 
dc.contributor.authorTam, PKH
 
dc.contributor.authorNguyen, TL
 
dc.contributor.authorGarcia-Barcelo, MM
 
dc.date.accessioned2012-11-16T03:36:30Z
 
dc.date.available2012-11-16T03:36:30Z
 
dc.date.issued2012
 
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.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationJournal of Pediatric Surgery, 2012, v. 47 n. 10, p. 1859-1864 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.jpedsurg.2012.05.020
 
dc.identifier.doihttp://dx.doi.org/10.1016/j.jpedsurg.2012.05.020
 
dc.identifier.epage1864
 
dc.identifier.hkuros212376
 
dc.identifier.isiWOS:000310777300029
 
dc.identifier.issn0022-3468
2013 Impact Factor: 1.311
2013 SCImago Journal Rankings: 0.811
 
dc.identifier.issue10
 
dc.identifier.pmid23084198
 
dc.identifier.scopuseid_2-s2.0-84867540471
 
dc.identifier.spage1859
 
dc.identifier.urihttp://hdl.handle.net/10722/174145
 
dc.identifier.volume47
 
dc.languageeng
 
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
 
dc.publisher.placeUnited States
 
dc.relation.ispartofJournal of Pediatric Surgery
 
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 mutations
 
dc.typeArticle
 
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<item><contributor.author>Ngo, DN</contributor.author>
<contributor.author>So, MT</contributor.author>
<contributor.author>Gui, H</contributor.author>
<contributor.author>Tran, AQ</contributor.author>
<contributor.author>Bui, DH</contributor.author>
<contributor.author>Cherny, S</contributor.author>
<contributor.author>Tam, PKH</contributor.author>
<contributor.author>Nguyen, TL</contributor.author>
<contributor.author>Garcia-Barcelo, MM</contributor.author>
<date.accessioned>2012-11-16T03:36:30Z</date.accessioned>
<date.available>2012-11-16T03:36:30Z</date.available>
<date.issued>2012</date.issued>
<identifier.citation>Journal of Pediatric Surgery, 2012, v. 47 n. 10, p. 1859-1864</identifier.citation>
<identifier.issn>0022-3468</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/174145</identifier.uri>
<description.abstract>BACKGROUND/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&gt;T]; R144C [c.430 C&gt;T]) missense amino acid substitutions, 2 novel silent variants (P667P [c.2001 A&gt;T]; Y809Y [c.2427 C&gt;T]), and 4 previously described missense substitutions (R114H [c.341 G&gt;A]; V292M [c.874 G&gt;A]; G533S [c.1597 G&gt;A]; R982C [c.2944 C&gt;T]). As expected, the common RET coding sequence variants rs1800858 (A45A [c.135 G&gt;A]) and rs1800861 (L769L [c.2307 T&gt;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.</description.abstract>
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<subject>Protein Ret</subject>
<subject>Amino acid substitution</subject>
<subject>Controlled study</subject>
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<subject>Genetic association</subject>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. The University of Hong Kong
  3. National Hospital of Pediatrics Hanoi