{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:34:23Z","timestamp":1762659263339},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>Spinal muscular atrophy (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (<jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic>). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> offspring. Most <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> carriers have one <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> copy and are currently detected using quantitative methods. A few, however, have two <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> genes in <jats:italic>cis<\/jats:italic> (2\/0 carriers), complicating carrier diagnosis in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>. We analyzed our experience in detecting 2\/0 carriers from a cohort of 1562 individuals, including <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> parents, <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> relatives, and unrelated individuals of the general population. Interestingly, in three couples who had an <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> child, both the parents had two <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> copies. Families of this type have not been previously reported. Our results emphasize the importance of performing a detailed carrier study in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> parents with two <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> copies. Expanding the analysis to other key family members might confirm potential 2\/0 carriers. Finally, when a partner of a known carrier presents two <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> copies, the study of both parents will provide a more accurate diagnosis, thus optimizing genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.12222","type":"journal-article","created":{"date-parts":[[2013,6,25]],"date-time":"2013-06-25T18:20:22Z","timestamp":1372184422000},"page":"470-475","source":"Crossref","is-referenced-by-count":31,"title":["Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the <i><scp>SMN1<\/scp><\/i> gene"],"prefix":"10.1111","volume":"85","author":[{"given":"L.","family":"Al\u00edas","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.J.","family":"Barcel\u00f3","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Bernal","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mart\u00ednez\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Also\u2010Rallo","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"V\u00e1zquez","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Hospital Materno Infantil de Las Palmas Gran Canaria Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Santana","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Hospital Materno Infantil de Las Palmas Gran Canaria Spain"},{"name":"CIBERER (U740) La Laguna, Tenerife Spain"},{"name":"Research Unit Hospital Dr Negrin de Las Palmas Gran Canaria Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Hospital La Fe Valencia Spain"},{"name":"CIBERER (U755) Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Baiget","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de la Santa Creu i Sant Pau Barcelona Spain"},{"name":"CIBERER (U705) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,7,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0598-1"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000446"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000214319.99550.10"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.4.1.15"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301918"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201821"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0253"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017067"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:43:43Z","timestamp":1696326223000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,16]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/cge.12222"],"URL":"https:\/\/doi.org\/10.1111\/cge.12222","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,16]]}}}