{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T12:49:52Z","timestamp":1789044592273,"version":"build-2803163510"},"reference-count":24,"publisher":"BMJ","issue":"1","funder":[{"DOI":"10.13039\/501100010753","name":"National Health Laboratory Service","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010753","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,10,11]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Mitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1\/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to describe the genetics underlying mitochondrial disease in South Africa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An audit was performed on all mitochondrial disease genetic testing performed in Cape Town, South Africa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 1614 samples tested for mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) variants in South Africa between 1994 and 2019, there were 155 (9.6 %) positive results. Pathogenic mtDNA variants accounted for 113 (73%)\/155, from 96 families. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, 37 (33%)\/113, Leber\u2019s hereditary optic neuropathy, 26 (23%)\/113, and single large mtDNA deletions, 22 (20%)\/113, accounted for 76%. Thirty eight of 42 nDNA-positive results were homozygous for the\n                      <jats:italic>MPV17<\/jats:italic>\n                      pathogenic variant c.106C&gt;T (p.[Gln36Ter, Ser25Profs*49]) causing infantile neurohepatopathy, one of the largest homozygous groups reported in the literature. The other nDNA variants were in\n                      <jats:italic>TAZ1, CPT2, BOLA3<\/jats:italic>\n                      and\n                      <jats:italic>SERAC1<\/jats:italic>\n                      . None were identified in\n                      <jats:italic>SURF1, POLG<\/jats:italic>\n                      or\n                      <jats:italic>PDHA1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Finding a large group with a homozygous nuclear pathogenic variant emphasises the importance of looking for possible founder effects. The absence of other widely described pathogenic nDNA variants in this cohort may be due to reduced prevalence or insufficient testing. As advances in therapeutics develop, it is critical to develop diagnostic platforms on the African subcontinent so that population-specific genetic variations can be identified.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-207026","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T17:20:43Z","timestamp":1603905643000},"page":"34-38","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings"],"prefix":"10.1136","volume":"75","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0612-2071","authenticated-orcid":false,"given":"Surita","family":"Meldau","sequence":"first","affiliation":[{"name":"Division of Chemical Pathology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa"},{"name":"Chemical Pathology, National Health Laboratory Services, Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth Patricia","family":"Owen","sequence":"additional","affiliation":[{"name":"Division of Chemical Pathology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa"},{"name":"Chemical Pathology, National Health Laboratory Services, Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kashief","family":"Khan","sequence":"additional","affiliation":[{"name":"Chemical Pathology, National Health Laboratory Services, Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian Tracy","family":"Riordan","sequence":"additional","affiliation":[{"name":"Division of Paediatric Neurology, Department of Paediatrics and Child Health, University of Cape Town, Cape Town, 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