{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T02:44:17Z","timestamp":1774320257410,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,8]],"date-time":"2017-11-08T00:00:00Z","timestamp":1510099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["FKZ 01ZX1405C"],"award-info":[{"award-number":["FKZ 01ZX1405C"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Biallelic mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC25A46<\/jats:styled-content><\/jats:italic>, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type <jats:styled-content style=\"fixed-case\">VIB<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>: *610826) and congenital lethal pontocerebellar hypoplasia (<jats:styled-content style=\"fixed-case\">PCH<\/jats:styled-content>). To date, 18 patients from 13 families have been reported, presenting with the key clinical features of optic atrophy, peripheral neuropathy, and cerebellar atrophy. The course of the disease was highly variable ranging from severe muscular hypotonia at birth and early death to first manifestations in late childhood and survival into the fifties. Here we report on 4 patients from 2 families diagnosed with <jats:styled-content style=\"fixed-case\">PCH<\/jats:styled-content> who died within the first month of life from respiratory insufficiency. Patients from 1 family had pathoanatomically proven spinal motor neuron degeneration (<jats:styled-content style=\"fixed-case\">PCH1<\/jats:styled-content>). Using exome sequencing, we identified biallelic disease\u2010segregating loss\u2010of\u2010function mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC25A46<\/jats:styled-content><\/jats:italic> in both families. Our study adds to the definition of the <jats:styled-content style=\"fixed-case\">SLC25A46<\/jats:styled-content>\u2010associated phenotypic spectrum that includes neonatal fatalities due to <jats:styled-content style=\"fixed-case\">PCH<\/jats:styled-content> as the severe extreme.<\/jats:p>","DOI":"10.1111\/cge.13084","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T09:11:47Z","timestamp":1498554707000},"page":"255-265","source":"Crossref","is-referenced-by-count":29,"title":["Extension of the phenotype of biallelic loss\u2010of\u2010function mutations in <scp>SLC25A46<\/scp> to the severe form of pontocerebellar hypoplasia type I"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8527-0699","authenticated-orcid":false,"given":"M.C.","family":"Braunisch","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Department of Nephrology, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Gallwitz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Socio\u2010Pediatric Center Klinikum Memmingen  Memmingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetics Center  Munich Germany"},{"name":"Friedrich\u2010Baur\u2010Institut, Neurologische Klinik und Poliklinik Klinikum der Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Diebold","sequence":"additional","affiliation":[{"name":"Medical Genetics Center  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Holinski\u2010Feder","sequence":"additional","affiliation":[{"name":"Medical Genetics Center  Munich Germany"},{"name":"Medizinische Klinik und Poliklinik IV, Campus Innenstadt Klinikum der Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University of Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Lammens","sequence":"additional","affiliation":[{"name":"Department of Pathology Antwerp University Hospital  Edegem Belgium"},{"name":"Department of Neuropathology, Born Bunge Institute Antwerp University  Wilrijk Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kov\u00e1cs\u2010Nagy","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Alhaddad","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.M.","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen  Neuherberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen  Neuherberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Senderek","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institut, Neurologische Klinik und Poliklinik Klinikum der Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Rudnik\u2010Sch\u00f6neborn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Medical University Innsbruck  Innsbruck Austria"},{"name":"Institut f\u00fcr Humangenetik Uniklinik RWTH Aachen  Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen  Neuherberg Germany"},{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-50"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3354"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12774"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12963"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww212"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.214"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100846"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.019"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26716"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000464445"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201506159"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.36.185.96"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90080-R"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31403"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-003-1099-7"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2006.06.016"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq007"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20797"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-23"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10863"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13084","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13084","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:24:18Z","timestamp":1695885858000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,8]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/cge.13084"],"URL":"https:\/\/doi.org\/10.1111\/cge.13084","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,8]]}}}