Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
dc.contributor.author | Lin, S | |
dc.contributor.author | Fasham, J | |
dc.contributor.author | Al-Hijawi, F | |
dc.contributor.author | Qutob, N | |
dc.contributor.author | Gunning, A | |
dc.contributor.author | Leslie, JS | |
dc.contributor.author | McGavin, L | |
dc.contributor.author | Ubeyratna, N | |
dc.contributor.author | Baker, W | |
dc.contributor.author | Zeid, R | |
dc.contributor.author | Turnpenny, PD | |
dc.contributor.author | Crosby, AH | |
dc.contributor.author | Baple, EL | |
dc.contributor.author | Khalaf-Nazzal, R | |
dc.date.accessioned | 2021-06-01T10:57:57Z | |
dc.date.issued | 2021-05-20 | |
dc.description.abstract | Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205 G > A];[205 G > A];p.[(Glu69Lys)];[(Glu69Lys)] SDHD variant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHD gene variants. | en_GB |
dc.description.sponsorship | University of Exeter Vice Chancellor Scholarship | en_GB |
dc.description.sponsorship | Wellcome Trust | en_GB |
dc.description.sponsorship | Medical Research Council (MRC) | en_GB |
dc.description.sponsorship | Zamalah-Taawon Program | en_GB |
dc.identifier.citation | Published online 20 May 2021 | en_GB |
dc.identifier.doi | 10.1038/s41431-021-00887-w | |
dc.identifier.grantnumber | 220600/Z/20/z | en_GB |
dc.identifier.grantnumber | MC_PC_18047 | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/125900 | |
dc.language.iso | en | en_GB |
dc.publisher | Springer Nature / European Society of Human Genetics | en_GB |
dc.rights | © The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | en_GB |
dc.title | Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2021-06-01T10:57:57Z | |
dc.identifier.issn | 1018-4813 | |
dc.description | This is the final version. Available on open access from Springer nature via the DOI in this record | en_GB |
dc.identifier.journal | European Journal of Human Genetics | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2021-03-30 | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2021-05-20 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2021-06-01T10:55:23Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2021-06-01T10:58:09Z | |
refterms.panel | A | en_GB |
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Except where otherwise noted, this item's licence is described as © The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.