{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T07:04:38Z","timestamp":1768719878859,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:00:00Z","timestamp":1520553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["INFRA\u20102013\u2010204423"],"award-info":[{"award-number":["INFRA\u20102013\u2010204423"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["INFRA\u20102016\u2010268123"],"award-info":[{"award-number":["INFRA\u20102016\u2010268123"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["S0008\u20102014\u20101\u2010233212"],"award-info":[{"award-number":["S0008\u20102014\u20101\u2010233212"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Splicing\u2010related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next\u2010generation sequencing, several splicing gene mutations have been exposed, yet most major spliceosome genes have no reports of germline mutations and therefore, their effects are largely unknown. We describe the previously unreported concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in 2 female siblings with 3 homozygous missense variants in <jats:italic>SNRPA<\/jats:italic> (a component of the U1 small nuclear ribonucleoprotein complex) characterized by homozygosity mapping and whole exome sequencing. Combined, c.97A&gt;G, c.98T&gt;C, and c.100T&gt;A, in exon 2 of <jats:italic>SNRPA<\/jats:italic> lead to p.Ile33Ala and p.Phe34Ile exchanges, which were predicted in silico to be deleterious. Although both patients exhibited some clinical features seen in other spliceosomal disorders, their complete clinical phenotype appears to be rather uncommon, a finding that may further support the notion that mutations in components of the major spliceosome do not strictly lead to the same syndromes\/phenotypes.<\/jats:p>","DOI":"10.1111\/cge.13235","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T15:31:49Z","timestamp":1518535909000},"page":"1229-1233","source":"Crossref","is-referenced-by-count":5,"title":["Exome sequencing reveals three homozygous missense variants in <i>SNRPA<\/i> in two sisters with syndromic intellectual disability"],"prefix":"10.1111","volume":"93","author":[{"given":"M.M.","family":"Rangel\u2010Sosa","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n  Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.E.","family":"Figuera\u2010Villanueva","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, CMNO\u2010IMSS  Guadalajara Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana CUCS\u2013Universidad de Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.A.","family":"Gonz\u00e1lez\u2010Ramos","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina Universidad Aut\u00f3noma de Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.X.","family":"P\u00e9rez\u2010P\u00e1ramo","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n  Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.A.","family":"Mart\u00ednez\u2010Jacobo","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n  Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Arnaud\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica, Divisi\u00f3n de Pediatr\u00eda Nuevo Hospital Civil \u201cDr. Juan I. 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