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Conference Paper: De novo mutations associated with sporadic cases of Caudal regresion syndrome

TitleDe novo mutations associated with sporadic cases of Caudal regresion syndrome
Authors
Issue Date2014
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
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 n. Suppl. 1, p. 211, abstract no. P11.031-S How to Cite?
AbstractAim: The identification of de novo disease causing mutations in three Caucasian patients with sporadic Caudal Regression Syndrome (CRS). CRS is a rare and diverse congenital disorder which is characterised by different degrees of agenesis of the caudal spine. Known genetic mutations are only able to explain a fraction of cases and are not accounting for sporadic occurrences or the diversity of the disorder. Methods: Exome sequencing assay was conducted of the three sporadic cases and their biological parents. We targeted rare genetic variants as the underlying cause of CRS as well as de novo mutations. Further we investigated de novo indels, copy number variations (CNV) and compound heterozygosity. Identified mutations were ranked and filtered based on genomic, genetic and statistical features. Results: Sanger sequencing confirmed two different de novo mutations in two cases (detailed results will be presented). In addition, our analysis revealed several potentially causal compound heterozygous mutations which are also under investigation. Conclusion: CRS may be caused by de novo or compound heterozy mutations thus, i) the diversity of the disorder is mirrored in the underlying genetic architecture and its mutations; ii) ranking of compound heterozygous mutations enables identification of candidate genes.
DescriptionPoster Presentation
Persistent Identifierhttp://hdl.handle.net/10722/201327
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077

 

DC FieldValueLanguage
dc.contributor.authorPorsch, RMen_US
dc.contributor.authorMerello, Een_US
dc.contributor.authorDe Marco, Pen_US
dc.contributor.authorSo, MTen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorCherny, SSen_US
dc.contributor.authorCapra, Ven_US
dc.contributor.authorGarcia-Barcelo, MMen_US
dc.contributor.authorCampbell, DDen_US
dc.date.accessioned2014-08-21T07:23:36Z-
dc.date.available2014-08-21T07:23:36Z-
dc.date.issued2014en_US
dc.identifier.citationEuropean 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 n. Suppl. 1, p. 211, abstract no. P11.031-Sen_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/201327-
dc.descriptionPoster Presentation-
dc.description.abstractAim: The identification of de novo disease causing mutations in three Caucasian patients with sporadic Caudal Regression Syndrome (CRS). CRS is a rare and diverse congenital disorder which is characterised by different degrees of agenesis of the caudal spine. Known genetic mutations are only able to explain a fraction of cases and are not accounting for sporadic occurrences or the diversity of the disorder. Methods: Exome sequencing assay was conducted of the three sporadic cases and their biological parents. We targeted rare genetic variants as the underlying cause of CRS as well as de novo mutations. Further we investigated de novo indels, copy number variations (CNV) and compound heterozygosity. Identified mutations were ranked and filtered based on genomic, genetic and statistical features. Results: Sanger sequencing confirmed two different de novo mutations in two cases (detailed results will be presented). In addition, our analysis revealed several potentially causal compound heterozygous mutations which are also under investigation. Conclusion: CRS may be caused by de novo or compound heterozy mutations thus, i) the diversity of the disorder is mirrored in the underlying genetic architecture and its mutations; ii) ranking of compound heterozygous mutations enables identification of candidate genes.-
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.titleDe novo mutations associated with sporadic cases of Caudal regresion syndromeen_US
dc.typeConference_Paperen_US
dc.identifier.emailSo, MT: jaymtso@hku.hken_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.emailTam, PKH: paultam@hku.hken_US
dc.identifier.emailCherny, SS: cherny@hku.hken_US
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hken_US
dc.identifier.emailCampbell, DD: ddc123@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.identifier.authorityCherny, SS=rp00232en_US
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_US
dc.identifier.hkuros233752en_US
dc.identifier.volume22-
dc.identifier.issueSuppl. 1-
dc.identifier.spage211, abstract no. P11.031-S-
dc.identifier.epage211, abstract no. P11.031-S-
dc.publisher.placeUnited Kingdom-

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