{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T12:32:45Z","timestamp":1747657965846,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T00:00:00Z","timestamp":1512950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006986","name":"Legacy Heritage Fund","doi-asserted-by":"publisher","award":["1798\/16"],"award-info":[{"award-number":["1798\/16"]}],"id":[{"id":"10.13039\/100006986","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["1798\/16"],"award-info":[{"award-number":["1798\/16"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>SLC25A1<\/jats:italic> mutations are associated with combined D,L\u20102\u2010hydroxyglutaric aciduria (DL\u2010 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. <jats:italic>SLC25A1<\/jats:italic> encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an <jats:italic>SLC25A1<\/jats:italic> mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV. Five infants of two consanguineous Bedouin families of the same tribe presented with small head circumference and neonatal\u2010onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development culminating in early death. Ventricular septal defects (VSD) were demonstrated in three patients. Blood and CSF lactate were elevated with normal levels of plasma amino acids and free carnitine and increased 2\u2010OH\u2010glutaric acid urinary exertion. EEG was compatible with white matter disorder. Brain MRI revealed ventriculomegaly, thin corpus callosum with increased lactate peak on spectroscopy. Mitochondrial complex V deficiency was demonstrated in skeletal muscle biopsy of one infant. Homozygosity mapping and sequencing ruled out homozygosity of affected individuals in all known complex V\u2010associated genes. Whole exome sequencing identified a novel homozygous <jats:italic>SLC25A1<\/jats:italic> c.713A&gt;G (p.Asn238Ser) mutation, segregating as expected in the affected kindred and not found in 220 control alleles. Thus, <jats:italic>SLC25A1<\/jats:italic> mutations might be associated with mitochondrial complex V deficiency and should be considered in the differential diagnosis of mitochondrial respiratory chain defects.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38574","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T05:38:56Z","timestamp":1512970736000},"page":"330-336","source":"Crossref","is-referenced-by-count":17,"title":["A novel homozygous <i>SLC25A1<\/i> mutation with impaired mitochondrial complex V: Possible phenotypic expansion"],"prefix":"10.1002","volume":"176","author":[{"given":"Idan","family":"Cohen","sequence":"first","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orna","family":"Staretz\u2010Chacham","sequence":"additional","affiliation":[{"name":"Metabolic unit, Division of Pediatrics, Soroka Medical Center Ben Gurion University Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonatan","family":"Perez","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann","family":"Saada","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research and The Department of Genetic Metabolic Diseases, Hadassah Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rotem","family":"Kadir","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-1296","authenticated-orcid":false,"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"Genetics Institute Soroka Medical Center Beer\u2010Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140021"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.159"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101485"},{"key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"13682","DOI":"10.1016\/S0021-9258(19)38701-0","article-title":"The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins","volume":"268","author":"Kaplan R. 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