{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:15:08Z","timestamp":1790615708640,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T00:00:00Z","timestamp":1577404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health","award":["Ricerca Corrente 2019"],"award-info":[{"award-number":["Ricerca Corrente 2019"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) is a rare autosomal recessive neuromuscular disorder characterized by arthrogryposis multiplex congenita and prenatal fractures of the long bones, with poor prognosis. The most affected patients present with biallelic loss\u2010of\u2010function nucleotide variants in <jats:italic>ASCC1<\/jats:italic> gene, coding a subunit of the transcriptional coactivator ASC\u20101 complex, although the exact pathogenesis is yet unknown. This work describes the first case of SMABF2 in a stillbirth with documented evolution of the disease in the prenatal period. A microdeletion copy number variant (CNV) of about 64 Kb, involving four exons of <jats:italic>ASCC1<\/jats:italic>, was firstly detected by microarray analysis, requested for arthrogryposis and hydrops. Subsequent exome analysis disclosed a nucleotide variant of the same gene [c.1027C&gt;T; (p. Arg343*)], resulting in the introduction of a premature termination codon. This stillbirth represents the first case of <jats:italic>ASCC1<\/jats:italic> compound heterozygosity, due to an exonic microdeletion and a nucleotide variant, expanding the mutational spectrum of this gene. It also provides further evidence that exonic CNVs are an underestimated cause of disease\u2010alleles and that the integrated use of the last generation genetic analysis tools, together with careful clinical evaluations, are fundamental for the characterization of rare diseases even in the prenatal setting.<\/jats:p>","DOI":"10.1002\/ajmg.a.61431","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T12:56:55Z","timestamp":1577451415000},"page":"508-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of <i>ASCC1<\/i>"],"prefix":"10.1002","volume":"182","author":[{"given":"Maria G.","family":"Giuffrida","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioia","family":"Mastromoro","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine Sapienza University, Policlinico Umberto I Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Truglio","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Fabbretti","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Torres","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-8062","authenticated-orcid":false,"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Roggini","sequence":"additional","affiliation":[{"name":"Pediatrics and Child Neuropsychiatry Department Policlinico Umberto I, Sapienza University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pizzuti","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Casa Sollievo della Sofferenza IRCCS Foundation  San Giovanni Rotondo Italy"},{"name":"Department of Experimental Medicine Sapienza University, Policlinico Umberto I Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105390"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00982-3"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","unstructured":"Carbone A. Bernardini L. Valenzano F. Bottillo I. desimone C. Capizzi R. \u2026Amerio P.(2008).Array\u2010based comparative genomic hybridization in early\u2010stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A SMAC\/DIABLO and RHOF 47 1067\u20131075.","DOI":"10.1002\/gcc.20601"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.117.008068","article-title":"Novel \u03b1\u2010actin gene mutation p.(Ala21Val) causing familial hypertrophic cardiomyopathy, myocardial noncompaction, and transmural crypts. 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