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Conference Paper: Exonic de novo mutations in sporadic Hirschsprung disease

TitleExonic de novo mutations in sporadic Hirschsprung disease
Authors
Issue Date2014
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
The 2014 European Human Genetics Conference in conjunction with the European Meeting on Psychosocial aspects of Genetics, Milan, Italy, 31 May-3 June 2014. In European Journal of Human Genetics, 2014, v. 22 suppl. 1, p. 90, abstract no. P03.18-M How to Cite?
AbstractHirschsprung disease (HSCR) is a disorder of the enteric nervous system (ENS) and is characterized by the absence of enteric neurons along a variable length of the intestine. HSCR most commonly presents sporadically, although it is familial in 5-20% of the patients. The sporadic form of the disorder is believed to be a genetically complex disease. To assess the role of de novo mutations in sporadic HSCR, we performed exome sequencing on 20 HSCR patients, predominantly females with long segment HSCR and their unaffected parents. We identified and confirmed 24 de novo mutations (18 SNVs, 6 Indels) in 17 different genes (1.2 per trio). Non-synonymous de novo mutations were identified in RET in 8 out of 20 patients, corroborating previous findings that RET is the major genetic contributor in long-segment HSCR. A replication study in independent HSCR patients, gene burden tests and functional analysis in both cell lines and zebra fish are currently being conducted. Interestingly, some of the genes harboring de novo mutations are members of pathways involved in the development of the ENS and the encoded proteins interact with known key signaling molecules. We will present all data which will enable us to make conclusion on whether, de novo mutations in genes other that RET also contribute to the development of sporadic HSCR.
DescriptionPoster Presentation
Persistent Identifierhttp://hdl.handle.net/10722/201328
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077

 

DC FieldValueLanguage
dc.contributor.authorHofstra, RMWen_US
dc.contributor.authorGui, Hen_US
dc.contributor.authorSchriemer, Den_US
dc.contributor.authorGriseri, Pen_US
dc.contributor.authorPelet, Aen_US
dc.contributor.authorRuiz-Ferrer, Men_US
dc.contributor.authorBerrios, Cen_US
dc.contributor.authorvan Ijcken, Wen_US
dc.contributor.authorvan den Hout, Men_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorCheng, Wen_US
dc.contributor.authorTang, SMen_US
dc.contributor.authorEggen, BJLen_US
dc.contributor.authorMatera, Ien_US
dc.contributor.authorCeccherini, Ien_US
dc.contributor.authorAmiel, Jen_US
dc.contributor.authorLyonnet, Sen_US
dc.contributor.authorAntinolo, Gen_US
dc.contributor.authorBorrego, Sen_US
dc.contributor.authorChakravarti, Aen_US
dc.contributor.authorGarcia-Barcelo, MMen_US
dc.date.accessioned2014-08-21T07:23:37Z-
dc.date.available2014-08-21T07:23:37Z-
dc.date.issued2014en_US
dc.identifier.citationThe 2014 European Human Genetics Conference in conjunction with the European Meeting on Psychosocial aspects of Genetics, Milan, Italy, 31 May-3 June 2014. In European Journal of Human Genetics, 2014, v. 22 suppl. 1, p. 90, abstract no. P03.18-Men_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/201328-
dc.descriptionPoster Presentation-
dc.description.abstractHirschsprung disease (HSCR) is a disorder of the enteric nervous system (ENS) and is characterized by the absence of enteric neurons along a variable length of the intestine. HSCR most commonly presents sporadically, although it is familial in 5-20% of the patients. The sporadic form of the disorder is believed to be a genetically complex disease. To assess the role of de novo mutations in sporadic HSCR, we performed exome sequencing on 20 HSCR patients, predominantly females with long segment HSCR and their unaffected parents. We identified and confirmed 24 de novo mutations (18 SNVs, 6 Indels) in 17 different genes (1.2 per trio). Non-synonymous de novo mutations were identified in RET in 8 out of 20 patients, corroborating previous findings that RET is the major genetic contributor in long-segment HSCR. A replication study in independent HSCR patients, gene burden tests and functional analysis in both cell lines and zebra fish are currently being conducted. Interestingly, some of the genes harboring de novo mutations are members of pathways involved in the development of the ENS and the encoded proteins interact with known key signaling molecules. We will present all data which will enable us to make conclusion on whether, de novo mutations in genes other that RET also contribute to the development of sporadic HSCR.-
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.titleExonic de novo mutations in sporadic Hirschsprung diseaseen_US
dc.typeConference_Paperen_US
dc.identifier.emailTam, PKH: paultam@hku.hken_US
dc.identifier.emailTang, SM: clalatsm@hku.hken_US
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hken_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_US
dc.identifier.hkuros233771en_US
dc.identifier.volume22-
dc.identifier.issuesuppl. 1-
dc.identifier.spage90, abstract no. P03.18-M-
dc.identifier.epage90, abstract no. P03.18-M-
dc.publisher.placeUnited Kingdom-

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