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

El-Wahsh, Shadi; Fellner, Avi; Hobbs, Matthew; Copty, Joe; Deveson, Ira; Stevanovski, Igor; Stoll, Marion; Zhu, Danqing; Narayanan, Ramesh K.; Grosz, Bianca; Worgan, Lisa; Cheong, Pak Leng; Yeow, Dennis; Rudaks, Laura; Hasan, Md Mehedi; Hayes, Vanessa M.; Kennerson, Marina; Kumar, Kishore R.; Hayes, Michael

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dc.contributor.author	El-Wahsh, Shadi
dc.contributor.author	Fellner, Avi
dc.contributor.author	Hobbs, Matthew
dc.contributor.author	Copty, Joe
dc.contributor.author	Deveson, Ira
dc.contributor.author	Stevanovski, Igor
dc.contributor.author	Stoll, Marion
dc.contributor.author	Zhu, Danqing
dc.contributor.author	Narayanan, Ramesh K.
dc.contributor.author	Grosz, Bianca
dc.contributor.author	Worgan, Lisa
dc.contributor.author	Cheong, Pak Leng
dc.contributor.author	Yeow, Dennis
dc.contributor.author	Rudaks, Laura
dc.contributor.author	Hasan, Md Mehedi
dc.contributor.author	Hayes, Vanessa M.
dc.contributor.author	Kennerson, Marina
dc.contributor.author	Kumar, Kishore R.
dc.contributor.author	Hayes, Michael
dc.date.accessioned	2024-05-10T09:10:14Z
dc.date.available	2024-05-10T09:10:14Z
dc.date.issued	2024-05
dc.description	SUPPLEMENTARY 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.abstract	No abstract available.	en_US
dc.description.department	School of Health Systems and Public Health (SHSPH)	en_US
dc.description.librarian	hj2024	en_US
dc.description.sdg	SDG-03:Good heatlh and well-being	en_US
dc.description.sponsorship	Paul 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.uri	https://movementdisorders.onlinelibrary.wiley.com/journal/23301619	en_US
dc.identifier.citation	El-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.issn	2330-1619 (online)
dc.identifier.other	10.1002/mdc3.14023
dc.identifier.uri	http://hdl.handle.net/2263/95890
dc.language.iso	en	en_US
dc.publisher	Wiley	en_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.subject	Dopa-responsive dystonia (DRD)	en_US
dc.subject	GCH1	en_US
dc.subject	Inversion	en_US
dc.subject	Structural variants	en_US
dc.subject	Whole genome sequencing (WGS)	en_US
dc.subject	Optical genome mapping	en_US
dc.subject	SDG-03: Good health and well-being	en_US
dc.subject	Letter	en_US
dc.title	An inversion affecting the GCH1 gene as a novel finding in dopa-responsive dystonia	en_US
dc.type	Article	en_US