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Conference Paper: Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease
Title | Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease |
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Authors | |
Issue Date | 2017 |
Publisher | The European Society of Human Genetics. |
Citation | European Human Genetics Conference (ESHG) 2017, Copenhagen, Denmark, 27-30 May 2017 How to Cite? |
Abstract | Sporadic Hirschsprung disease (HSCR), representing ~80% of the HSCR cases, is the most common form of the disorder and is believed to be genetically complex. Thus far, studies of rare mutations have discovered more than 10 genes (e.g. RET, EDNRB and GDNF) associated with the disease. The major HSCR gene, RET, have both rare coding mutations and common regulatory variants contributing to the disease. The differential contributions of these rare and common, coding and noncoding variants tend to vary with length of aganglionosis. In view of this, we performed a high coverage whole genome sequencing (~30X) of 11 trios of sporadic patients with the rarer subtype (long segment HSCR; L-HSCR), aiming to identify rare de novo, recessive and compound heterozygous mutations causal to HSCR. Our data show that the combined contribution of the de novo and inherited, both coding and non-coding, variants contribute to the development of ENS and thereby to HSCR. The discovery might shed light on pathways relevant to the etiology of HSCR. This work has been supported by HMRF grant 01121516 to MMGB. |
Description | Session P03. Internal organs & endocrinology (lung, kidney, liver, gastrointestinal: Abstract and Poster Presentation no. P03.20D |
Persistent Identifier | http://hdl.handle.net/10722/246639 |
DC Field | Value | Language |
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dc.contributor.author | Tang, SM | - |
dc.contributor.author | ZHUANG, X | - |
dc.contributor.author | So, MT | - |
dc.contributor.author | Cherny, SS | - |
dc.contributor.author | Sham, PC | - |
dc.contributor.author | Tam, PKH | - |
dc.contributor.author | Garcia-Barcelo, MM | - |
dc.date.accessioned | 2017-09-18T02:32:05Z | - |
dc.date.available | 2017-09-18T02:32:05Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | European Human Genetics Conference (ESHG) 2017, Copenhagen, Denmark, 27-30 May 2017 | - |
dc.identifier.uri | http://hdl.handle.net/10722/246639 | - |
dc.description | Session P03. Internal organs & endocrinology (lung, kidney, liver, gastrointestinal: Abstract and Poster Presentation no. P03.20D | - |
dc.description.abstract | Sporadic Hirschsprung disease (HSCR), representing ~80% of the HSCR cases, is the most common form of the disorder and is believed to be genetically complex. Thus far, studies of rare mutations have discovered more than 10 genes (e.g. RET, EDNRB and GDNF) associated with the disease. The major HSCR gene, RET, have both rare coding mutations and common regulatory variants contributing to the disease. The differential contributions of these rare and common, coding and noncoding variants tend to vary with length of aganglionosis. In view of this, we performed a high coverage whole genome sequencing (~30X) of 11 trios of sporadic patients with the rarer subtype (long segment HSCR; L-HSCR), aiming to identify rare de novo, recessive and compound heterozygous mutations causal to HSCR. Our data show that the combined contribution of the de novo and inherited, both coding and non-coding, variants contribute to the development of ENS and thereby to HSCR. The discovery might shed light on pathways relevant to the etiology of HSCR. This work has been supported by HMRF grant 01121516 to MMGB. | - |
dc.language | eng | - |
dc.publisher | The European Society of Human Genetics. | - |
dc.relation.ispartof | European Human Genetics Conference (ESHG) 2017 | - |
dc.title | Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Tang, SM: claratang@hku.hk | - |
dc.identifier.email | So, MT: jaymtso@hku.hk | - |
dc.identifier.email | Cherny, SS: cherny@hku.hk | - |
dc.identifier.email | Sham, PC: pcsham@hku.hk | - |
dc.identifier.email | Tam, PKH: paultam@hku.hk | - |
dc.identifier.email | Garcia-Barcelo, MM: mmgarcia@hku.hk | - |
dc.identifier.authority | Tang, SM=rp02105 | - |
dc.identifier.authority | Cherny, SS=rp00232 | - |
dc.identifier.authority | Sham, PC=rp00459 | - |
dc.identifier.authority | Tam, PKH=rp00060 | - |
dc.identifier.authority | Garcia-Barcelo, MM=rp00445 | - |
dc.identifier.hkuros | 277400 | - |
dc.publisher.place | Austria | - |