{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:52Z","timestamp":1791279952247,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,5,30]],"date-time":"2013-05-30T00:00:00Z","timestamp":1369872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Alfred I. duPont Hospital for Children of the Nemours Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2013,7]]},"abstract":"Abstract<\/jats:title>\n \n Spinal muscular atrophy (\n SMA<\/jats:styled-content>\n ), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of\n \n SMN<\/jats:styled-content>\n 1\n <\/jats:italic>\n copy number. Approximately 3\u20135% of patients with\n SMA<\/jats:styled-content>\n retain at least one copy of the\n \n SMN<\/jats:styled-content>\n 1\n <\/jats:italic>\n gene carrying pathogenic insertions, deletions, or point mutations. We report a patient with\n SMA<\/jats:styled-content>\n who is homozygous for two mutations carried\n in cis<\/jats:italic>\n : an 8\u00a0bp duplication (c.48_55dup\n GGATTCCG<\/jats:styled-content>\n ; p.Val19fs*24) and a point mutation (c.662C>T; p.Pro221Leu). The consanguineous parents carry the same two mutations within one\n \n SMN<\/jats:styled-content>\n 1\n <\/jats:italic>\n gene copy. We demonstrate that a more accurate diagnosis of the disease is obtained through a novel diagnostic assay and development of a capillary electrophoresis method to determine the copy number of their mutant alleles. This illustrates the complexity of\n \n SMN<\/jats:styled-content>\n <\/jats:italic>\n mutations and suggests additional testing (gene sequencing) may be appropriate when based on family lines.\n <\/jats:p>","DOI":"10.1002\/mgg3.10","type":"journal-article","created":{"date-parts":[[2013,5,30]],"date-time":"2013-05-30T05:23:10Z","timestamp":1369891390000},"page":"113-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A homozygous double mutation in\n \n SMN<\/scp>\n 1\n <\/i>\n : a complicated genetic diagnosis of\n SMA<\/scp>"],"prefix":"10.1002","volume":"1","author":[{"given":"Susan M.","family":"Kirwin","sequence":"first","affiliation":[{"name":"Molecular Diagnostics Laboratory Nemours\/Alfred I. duPont Hospital for Children Wilmington Delaware 19803"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy M. B.","family":"Vinette","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory Nemours\/Alfred I. duPont Hospital for Children Wilmington Delaware 19803"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris L.","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory Nemours\/Alfred I. duPont Hospital for Children Wilmington Delaware 19803"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hind Al","family":"Abdulwahed","sequence":"additional","affiliation":[{"name":"Dhahran Health Center Dhahran Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouriya","family":"Al\u2010Sannaa","sequence":"additional","affiliation":[{"name":"Dhahran Health Center Dhahran Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicky L.","family":"Funanage","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory Nemours\/Alfred I. duPont Hospital for Children Wilmington Delaware 19803"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,30]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"221","article-title":"A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia","volume":"5","author":"Al Jumah M.","year":"2007","journal-title":"J. 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