{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T07:03:28Z","timestamp":1760425408971},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondazione Meyer ONLUS"},{"name":"Giovani Ricercatori-2a edizione"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,11]]},"abstract":"Barth syndrome (BTHS<\/jats:styled-content>) is an X\u2010linked inborn error of metabolism which affects males. The main manifestations are cardiomyopathy, myopathy, hypotonia, growth delay, intermittent neutropenia and 3\u2010methylglutaconic aciduria. Diagnosis is confirmed by mutational analysis of the TAZ<\/jats:styled-content><\/jats:italic> gene and biochemical dosage of the monolysocardiolipin\/tetralinoleoyl cardiolipin (MLCL<\/jats:styled-content>:L4\u2010CL<\/jats:styled-content>) ratio. We report a 6\u2010year\u2010old boy who presented with severe hypoglycemia, lactic acidosis and severe dilated cardiomyopathy soon after birth. The MLCL<\/jats:styled-content>:L4\u2010CL<\/jats:styled-content> ratio confirmed BTHS<\/jats:styled-content> (3.90 on patient's fibroblast, normal: 0\u20130.3). Subsequent sequencing of the TAZ<\/jats:styled-content><\/jats:italic> gene revealed only the new synonymous variant NM_000116.3 (TAZ<\/jats:styled-content><\/jats:italic>):c.348C<\/jats:styled-content>>T p.(Gly116Gly<\/jats:styled-content>), which did not appear to affect the protein sequence. In silico<\/jats:italic> prediction analysis suggested the new c.348C<\/jats:styled-content>>T nucleotide change could alter the TAZ<\/jats:styled-content><\/jats:italic> mRNA<\/jats:styled-content> splicing processing. We analyzed TAZ<\/jats:styled-content><\/jats:italic> mRNAs<\/jats:styled-content> in the patient's fibroblasts and found an abnormal skipping of 24 bases (NM_000116.3:c.346_371), with the consequent ablation of 8 amino acid residues in the tafazzin protein (NP_000107.1:p.Lys117_Gly124del). Molecular analysis of at risk female family members identified the patient's sister and mother as heterozygous carriers. Apparently harmless synonymous variants in the TAZ<\/jats:styled-content><\/jats:italic> gene can damage gene expression. Such findings widen our knowledge of molecular heterogeneity in BTHS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12756","type":"journal-article","created":{"date-parts":[[2016,2,8]],"date-time":"2016-02-08T09:08:15Z","timestamp":1454922495000},"page":"461-465","source":"Crossref","is-referenced-by-count":15,"title":["When silence is noise: infantile\u2010onset Barth syndrome caused by a synonymous substitution affecting TAZ<\/scp><\/i> gene transcription"],"prefix":"10.1111","volume":"90","author":[{"given":"L.","family":"Ferri","sequence":"first","affiliation":[{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Florence Italy"},{"name":"Neuroscience, Psychology, Pharmacology and Child Health Department University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Metabolism and Research Unit of Metabolic Biochemistry Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Taurisano","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Metabolism and Research Unit of Metabolic Biochemistry Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. M.","family":"Vaz","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Paediatrics, Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Florence Italy"},{"name":"Neuroscience, Psychology, Pharmacology and Child Health Department University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Morrone","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Florence Italy"},{"name":"Neuroscience, Psychology, Pharmacology and Child Health Department University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-27"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2667"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-23"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-385"},{"key":"e_1_2_6_7_1","first-page":"2003","article-title":"The enigmatic role of tafazzin in cardiolipin metabolism","volume":"2009","author":"Houtkooper RH","year":"1788","journal-title":"Biochim Biophys Acta"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0163-7827(00)00005-9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10495-007-0718-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10176"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30661"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1139\/o04-055"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.016642"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2009.01.032"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2007.095711"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9747-y"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2014.04.006"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3051"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2015.04.001"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.456"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt180"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.009"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022951"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12756","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12756","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T12:06:26Z","timestamp":1694261186000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,4]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1111\/cge.12756"],"URL":"https:\/\/doi.org\/10.1111\/cge.12756","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,4]]}}}