{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T19:59:41Z","timestamp":1776801581794,"version":"3.51.2"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,5,25]],"date-time":"2016-05-25T00:00:00Z","timestamp":1464134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Telethon","award":["GGP11011"],"award-info":[{"award-number":["GGP11011"]}]},{"name":"Italian Ministry of Health","award":["GR2010-2316392"],"award-info":[{"award-number":["GR2010-2316392"]}]},{"name":"Italian Association of Mitochondrial Disease Patients and Families"},{"name":"Australian NHMRC","award":["1026891"],"award-info":[{"award-number":["1026891"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p><jats:styled-content style=\"fixed-case\">NDUFB11<\/jats:styled-content>, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the \u201csupernumerary\u201d group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X\u2010linked nuclear\u2010encoded <jats:italic><jats:styled-content style=\"fixed-case\">NDUFB11<\/jats:styled-content><\/jats:italic> gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a <jats:italic>de novo<\/jats:italic> mutation in <jats:italic><jats:styled-content style=\"fixed-case\">NDUFB11<\/jats:styled-content><\/jats:italic> and displaying early\u2010onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">NDUFB11<\/jats:styled-content><\/jats:italic>, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of <jats:italic><jats:styled-content style=\"fixed-case\">NDUFB11<\/jats:styled-content><\/jats:italic> defects.<\/jats:p>","DOI":"10.1111\/cge.12790","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T13:44:25Z","timestamp":1461332665000},"page":"441-447","source":"Crossref","is-referenced-by-count":28,"title":["A novel mutation in <i><scp>NDUFB11<\/scp><\/i> unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia"],"prefix":"10.1111","volume":"91","author":[{"given":"A.","family":"Torraco","sequence":"first","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Verrigni","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Gelmetti","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, CSS\u2010Mendel Laboratory IRCCS Casa Sollievo della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Riley","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Research Unit Children's Hospital at Westmead  Sydney Australia"},{"name":"Discipline of Paediatrics &amp; Child Health University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Niceta","sequence":"additional","affiliation":[{"name":"Division of Genetic Disorders and Rare Diseases Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Montanari","sequence":"additional","affiliation":[{"name":"Pasteur Institute \u2013 Cenci Bolognetti Foundation Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Guo","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Research Unit Children's Hospital at Westmead  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Rizza","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Diodato","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Di Nottia","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Lucarelli","sequence":"additional","affiliation":[{"name":"Stem Cell Transplant Unit, Department of Hematology and Oncology Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"UO Talassemici \u2010Anemie Rare del Globulo Rosso, Ospedale S Eugenio  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Piemonte","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Francisci","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnologies \u201cC. Darwin\u201d Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Division of Genetic Disorders and Rare Diseases Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.M.","family":"Valente","sequence":"additional","affiliation":[{"name":"Section of Neurosciences, Department of Medicine and Surgery University of Salerno  Salerno Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Research Unit Children's Hospital at Westmead  Sydney Australia"},{"name":"Discipline of Paediatrics &amp; Child Health University of Sydney  Sydney Australia"},{"name":"Discipline of Genetic Medicine University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Carrozzo","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.6.1255"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M209166200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(79)56056-X"},{"key":"e_1_2_6_5_1","first-page":"1015","article-title":"The mitochondrial electron transport and oxidative phosphorylation system","volume":"54","author":"Hatefi Y","year":"1985","journal-title":"Annu Rev Plant Physiol Plant Mol Biol"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9492-z"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.188"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2012.07.106"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2011.08.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.10.001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.11622\/smedj.2015112"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37138"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.2004.04260.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.09.006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.03.121"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1046-2023(02)00038-5"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181131"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3003310"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-3527(00)55020-9"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-193"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20130193"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C112.436766"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200009000-00008"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.006"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/508474"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.09.016"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12217"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2014.04.008"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.06.004"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_515"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-591370"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv044"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-659854"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6733"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12790","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.12790","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T04:01:49Z","timestamp":1694145709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,25]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/cge.12790"],"URL":"https:\/\/doi.org\/10.1111\/cge.12790","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,25]]}}}