{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:15:36Z","timestamp":1790615736617,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T00:00:00Z","timestamp":1490918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["Pest\u2010OE\/SAU\/UI0215\/2014"],"award-info":[{"award-number":["Pest\u2010OE\/SAU\/UI0215\/2014"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>Next\u2010generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole\u2010exome sequencing was performed with variant filtering assuming a recessive disease model. Analysis focused on genes known to be related firstly with congenital myopathies, extended to muscle diseases and finally to other neuromuscular disorders. No disease\u2010causing variants were identified. A similar disorder was described in patients with recessive variants in two genes: <jats:italic>\n<jats:styled-content style=\"fixed-case\">TRIP4<\/jats:styled-content>\n<\/jats:italic> (three families) and <jats:italic>\n<jats:styled-content style=\"fixed-case\">ASCC1<\/jats:styled-content>\n<\/jats:italic> (one family), both encoding subunits of the nuclear activating signal cointegrator 1 (<jats:styled-content style=\"fixed-case\">ASC<\/jats:styled-content>\u20101) complex. Our patient was also found to have a homozygous frameshift variant (c.<jats:styled-content style=\"fixed-case\">157dupG<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">Glu53Glyfs<\/jats:styled-content>*19) in <jats:italic>\n<jats:styled-content style=\"fixed-case\">ASCC1<\/jats:styled-content>\n<\/jats:italic>, thereby representing the second known case. This confirms <jats:italic>\n<jats:styled-content style=\"fixed-case\">ASCC1<\/jats:styled-content>\n<\/jats:italic> involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra.<\/jats:p>","DOI":"10.1111\/cge.12997","type":"journal-article","created":{"date-parts":[[2017,2,20]],"date-time":"2017-02-20T11:42:53Z","timestamp":1487590973000},"page":"434-439","source":"Crossref","is-referenced-by-count":31,"title":["The new neuromuscular disease related with defects in the <scp>ASC<\/scp>\u20101 complex: report of a second case confirms <i><scp>ASCC1<\/scp><\/i> involvement"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3924-6385","authenticated-orcid":false,"given":"J.","family":"Oliveira","sequence":"first","affiliation":[{"name":"Unidade de Gen\u00e9tica Molecular, Centro de Gen\u00e9tica M\u00e9dica Dr. Jacinto Magalh\u00e3es Centro Hospitalar do Porto  Porto Portugal"},{"name":"Unidade Multidisciplinar de Investiga\u00e7\u00e3o Biom\u00e9dica (UMIB), Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS) Universidade do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Martins","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Tr\u00e1s\u2010os\u2010Montes e Alto Douro Unidade de Gen\u00e9tica  Vila Real Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Pinto Leite","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Tr\u00e1s\u2010os\u2010Montes e Alto Douro Unidade de Gen\u00e9tica  Vila Real Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Sousa","sequence":"additional","affiliation":[{"name":"Unidade Multidisciplinar de Investiga\u00e7\u00e3o Biom\u00e9dica (UMIB), Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS) Universidade do Porto  Porto Portugal"},{"name":"Laborat\u00f3rio de Biologia Celular, Departamento de Microscopia, Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS) Universidade do Porto  Porto Portugal"},{"name":"Centro de Gen\u00e9tica da Reprodu\u00e7\u00e3o Prof. Alberto Barros  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Santos","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica Molecular, Centro de Gen\u00e9tica M\u00e9dica Dr. Jacinto Magalh\u00e3es Centro Hospitalar do Porto  Porto Portugal"},{"name":"Unidade Multidisciplinar de Investiga\u00e7\u00e3o Biom\u00e9dica (UMIB), Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS) Universidade do Porto  Porto Portugal"},{"name":"UCIBIO\\REQUIMTE, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia Universidade do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0364-0"},{"key":"e_1_2_7_3_1","first-page":"30241","article-title":"New era in genetics of early\u2010onset muscle disease: Breakthroughs and challenges","volume":"16","author":"Ravenscroft G","year":"2016","journal-title":"Semin Cell Dev 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