An inversion affecting the GCH1 gene as a novel finding in dopa-responsive dystonia

dc.contributor.authorEl-Wahsh, Shadi
dc.contributor.authorFellner, Avi
dc.contributor.authorHobbs, Matthew
dc.contributor.authorCopty, Joe
dc.contributor.authorDeveson, Ira
dc.contributor.authorStevanovski, Igor
dc.contributor.authorStoll, Marion
dc.contributor.authorZhu, Danqing
dc.contributor.authorNarayanan, Ramesh K.
dc.contributor.authorGrosz, Bianca
dc.contributor.authorWorgan, Lisa
dc.contributor.authorCheong, Pak Leng
dc.contributor.authorYeow, Dennis
dc.contributor.authorRudaks, Laura
dc.contributor.authorHasan, Md Mehedi
dc.contributor.authorHayes, Vanessa M.
dc.contributor.authorKennerson, Marina
dc.contributor.authorKumar, Kishore R.
dc.contributor.authorHayes, Michael
dc.date.accessioned2024-05-10T09:10:14Z
dc.date.available2024-05-10T09:10:14Z
dc.date.issued2024-05
dc.descriptionSUPPLEMENTARY FILE : SUPPLEMENTARY FIGURE S1. Pedigree of the family. Arrow indicates proband who underwent genetic studies, filled symbol indicates affected, squares represent males and circles represent females. d. MVA = died in motor vehicle accident. Additional family members were not available for testing. SUPPLEMENTARY FIGURE S2. Illumina short read whole genome sequencing data indicating a structural variant (NC_000014.8:g.[55343254_55346605del;55346606_60822142inv;60822143_60823119del]) on chromosome 14 affecting GCH1. Chimaeric (“split”) reads identified by the ClinSV tool are visualized in the IGV genome browser. To ease interpretation the alignments of segments of two representative reads are highlighted (A00488:195:HGJN7DSX2:3:2336:15573:12743 in red, and A00488:195:HGJN7DSX2:3:2160:31503:1219 in blue). Other tracks show the deletions which flank the inversion, and the exonic structure of GCH1 transcript NM_000161.3. (A) The left-hand (centromere proximal) breakpoint region, associated with a 3.4 kb deletion. (B) The right-hand (centromere distal) breakpoint region, associated with a smaller (1.0 kb) deletion. SUPPLEMENTARY FIGURE S3. Oxford Nanopore long read sequencing (LRS) data supporting the proposed structural variant. Chimaeric nanopore sequences are visualized in the IGV genome browser. The sequence alignments confirm the breakpoints indicated by short read sequencing analysis, and extend wide enough for a high level of confidence in read locations. (A, B) Inversion breakpoint regions as in Fig. S2, but in a 50 kb window.
dc.description.abstractNo abstract available.en_US
dc.description.departmentSchool of Health Systems and Public Health (SHSPH)en_US
dc.description.librarianhj2024en_US
dc.description.sdgSDG-03:Good heatlh and well-beingen_US
dc.description.sponsorshipPaul Ainsworth Family Foundation. Open access publishing facilitated by University of New South Wales, as part of the Wiley - University of New South Wales agreement via the Council of Australian University Librarians.en_US
dc.description.urihttps://movementdisorders.onlinelibrary.wiley.com/journal/23301619en_US
dc.identifier.citationEl-Wahsh, S., Fellner, A., Hobbs, M. et al. 2024, 'An inversion affecting the GCH1 gene as a novel finding in dopa-responsive dystonia', Movement Disorders Clinical Practice, vol. 11, no. 5, pp. 582-585, doi : 10.1002/mdc3.14023.en_US
dc.identifier.issn2330-1619 (online)
dc.identifier.other10.1002/mdc3.14023
dc.identifier.urihttp://hdl.handle.net/2263/95890
dc.language.isoenen_US
dc.publisherWileyen_US
dc.rights© 2024 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License.en_US
dc.subjectDopa-responsive dystonia (DRD)en_US
dc.subjectGCH1en_US
dc.subjectInversionen_US
dc.subjectStructural variantsen_US
dc.subjectWhole genome sequencing (WGS)en_US
dc.subjectOptical genome mappingen_US
dc.subjectSDG-03: Good health and well-beingen_US
dc.subjectLetteren_US
dc.titleAn inversion affecting the GCH1 gene as a novel finding in dopa-responsive dystoniaen_US
dc.typeArticleen_US

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