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Conference Paper: Rare variants in sporadic Hirschsprung disease patients

TitleRare variants in sporadic Hirschsprung disease patients
Authors
Issue Date2015
PublisherAmerican Society of Human Genetics. The Conference Abstracts' web site is located at http://www.ashg.org/2015meeting/pages/posterlisting.shtml
Citation
The 65th Annual Meeting of the American Society of Human Genetics (ASHG 2015), Baltimore, MD., 6-10 October 2015. How to Cite?
AbstractSporadic Hirschsprung disease (HSCR), accounting for ~80% of the patients, represents the most common form of the disorder and is believed to be genetically complex. Studies of rare mutations have discovered more than 10 genes associated with HSCR. The major HSCR-susceptibility gene, RET, have both rare coding sequence mutations and common regulatory variants contributing to the disease. The differential contributions of rare and common, coding and noncoding variants tend to vary in accordance with gender and length of aganglionosis. In view of this, we performed a whole genome sequencing study of 5 trios of sporadic patients with the rarer subtype (long segment HSCR) to identify rare mutations causal to HSCR. Our data show that de novo as well as inherited variants contribute to the development of ENS and thereby to HSCR. The discovery might give rise to a new insight into the disease pathophysiology.
DescriptionPoster Session - Complex Traits and Polygenic Disorders: no. 764W
Persistent Identifierhttp://hdl.handle.net/10722/226501

 

DC FieldValueLanguage
dc.contributor.authorTang, SM-
dc.contributor.authorSo, MT-
dc.contributor.authorCherny, SS-
dc.contributor.authorSham, PC-
dc.contributor.authorTam, PKH-
dc.contributor.authorGarcia-Barcelo, MM-
dc.date.accessioned2016-06-17T07:44:33Z-
dc.date.available2016-06-17T07:44:33Z-
dc.date.issued2015-
dc.identifier.citationThe 65th Annual Meeting of the American Society of Human Genetics (ASHG 2015), Baltimore, MD., 6-10 October 2015.-
dc.identifier.urihttp://hdl.handle.net/10722/226501-
dc.descriptionPoster Session - Complex Traits and Polygenic Disorders: no. 764W-
dc.description.abstractSporadic Hirschsprung disease (HSCR), accounting for ~80% of the patients, represents the most common form of the disorder and is believed to be genetically complex. Studies of rare mutations have discovered more than 10 genes associated with HSCR. The major HSCR-susceptibility gene, RET, have both rare coding sequence mutations and common regulatory variants contributing to the disease. The differential contributions of rare and common, coding and noncoding variants tend to vary in accordance with gender and length of aganglionosis. In view of this, we performed a whole genome sequencing study of 5 trios of sporadic patients with the rarer subtype (long segment HSCR) to identify rare mutations causal to HSCR. Our data show that de novo as well as inherited variants contribute to the development of ENS and thereby to HSCR. The discovery might give rise to a new insight into the disease pathophysiology.-
dc.languageeng-
dc.publisherAmerican Society of Human Genetics. The Conference Abstracts' web site is located at http://www.ashg.org/2015meeting/pages/posterlisting.shtml-
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2015-
dc.titleRare variants in sporadic Hirschsprung disease patients-
dc.typeConference_Paper-
dc.identifier.emailTang, SM: claratang@hku.hk-
dc.identifier.emailSo, MT: jaymtso@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityTang, SM=rp02105-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.identifier.hkuros258218-
dc.publisher.placeUnited States-

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