A novel ERCC6 splicing variant associated with a mild cockayne syndrome phenotype

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dc.authorid7768en_US
dc.contributor.authorSwartz, Jonathan M
dc.contributor.authorAkıncı, Ayşehan
dc.contributor.authorAndrew, Shayne F
dc.contributor.authorSığırcı, Ahmet
dc.contributor.authorHirschhorn, Joel N
dc.contributor.authorRosenfeld, Ron G
dc.contributor.authorDauber, Andrew
dc.contributor.authorHwa, ,Vivian
dc.date.accessioned2017-06-20T08:30:27Z
dc.date.available2017-06-20T08:30:27Z
dc.date.issued2014
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground—Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classic features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. Methods—Whole-exome sequencing was employed to study a consanguineous extended family with severe short stature and variable presentations of peripheral neuropathy, lipoatrophy, photosensitivity, webbed neck, and hirsutism. Results—We identified a novel homozygous ERCC6 variant at the donor splice site of intron 9 (c.1992+3A>G), which was predicted to only slightly perturb splicing efficiencies. Assessment of primary fibroblast-derived mRNAs, however, revealed a dominant splicing species that utilized an unsuspected putative donor splice site within exon 9, resulting in predicted early protein termination (p.Arg637Serfs*34). Conclusions—We describe a new splicing ERCC6 defect causal of Cockayne syndrome. The application of exome sequence analysis was integral to diagnosis, given the complexity of phenotypic presentation in affected family members. The novel splicing defect, furthermore, illustrates how a seemingly minor change in the relative strength of a splice site can have significant biological consequences.en_US
dc.identifier.citationSwartz, J. M. Akıncı, A. Andrew, S. F. Sığırcı, A. Hirschhorn, J. N. Rosenfeld, R. G. Dauber, A. Hwa,V. (2014). A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype. Hormone Research in Paediatrics, 82(5), 344–352.en_US
dc.identifier.doi10.1159/000368192en_US
dc.identifier.endpage352en_US
dc.identifier.issn1663-2826
dc.identifier.issue5en_US
dc.identifier.startpage344en_US
dc.identifier.urihttp://www.karger.com?doi=10.1159/000368192
dc.identifier.urihttps://hdl.handle.net/11616/7115
dc.identifier.volume82en_US
dc.language.isoenen_US
dc.publisherHormone Research in Paediatricsen_US
dc.relation.ispartofHormone Research in Paediatricsen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleA novel ERCC6 splicing variant associated with a mild cockayne syndrome phenotypeen_US
dc.typeArticleen_US

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