{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T23:44:42Z","timestamp":1785368682890,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:00:00Z","timestamp":1583884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004607","name":"Natural Science Foundation of Guangxi Province","doi-asserted-by":"publisher","award":["2016GXNSFBA380191"],"award-info":[{"award-number":["2016GXNSFBA380191"]}],"id":[{"id":"10.13039\/501100004607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004607","name":"Natural Science Foundation of Guangxi Province","doi-asserted-by":"publisher","award":["2017JJB10161"],"award-info":[{"award-number":["2017JJB10161"]}],"id":[{"id":"10.13039\/501100004607","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A very limited spectrum of <jats:italic>ASCC1<\/jats:italic> pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A proband from a non\u2010consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well as congenital bone fractures was performed by exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A compound heterozygosity of a nonsense (c.932C&gt;G,p.Ser311Ter) and an exon 5 deletion in <jats:italic>ASCC1<\/jats:italic> segregating with phenotypes was detected, both variants are novel and pathogenic. Since <jats:italic>ASCC1<\/jats:italic> is a relatively new disease gene, we performed the gene curation by ClinGen SOP. The existing evidence is sufficient to support a \"Definitive\" level of disease\u2010gene relationship.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case report expended the mutation spectrum of <jats:italic>ASCC1<\/jats:italic> and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1212","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T21:25:00Z","timestamp":1583961900000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel compound heterozygous pathogenic variants in <i>ASCC1<\/i> in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a \"Definitive\" gene\u2010disease relationship"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8671-8413","authenticated-orcid":false,"given":"Weiliang","family":"Lu","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingxing","family":"Liang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiasun","family":"Su","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingxiao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neonatology Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning 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