{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T05:12:50Z","timestamp":1768713170241,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. <jats:italic>SNRPE<\/jats:italic> encodes a core component of pre\u2010mRNA processing U\u2010rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in <jats:italic>SNRPE<\/jats:italic> have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic <jats:italic>SNRPE<\/jats:italic> deletion, c.82\u201028_82\u201016del, which results in exon skipping. As discussed within, this phenotype, which we propose be named <jats:italic>SNRPE<\/jats:italic>\u2010related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63149","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T06:38:27Z","timestamp":1677134307000},"page":"1425-1429","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel blended <scp><i>SNRPE<\/i><\/scp>\u2010related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia"],"prefix":"10.1002","volume":"191","author":[{"given":"Shivarajan M.","family":"Amudhavalli","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Paolillo","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Lawson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Patterson","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kussmann","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J.","family":"Nopper","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri USA"},{"name":"Division of Dermatology, Department of Pediatrics Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Lypka","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7407-7735","authenticated-orcid":false,"given":"Carol","family":"Saunders","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri USA"},{"name":"Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.183"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008460"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.214"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.023"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.10394"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20089"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.022"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3004041"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-24852-9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63149","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63149","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:41:03Z","timestamp":1697082063000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,22]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/ajmg.a.63149"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63149","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,22]]},"assertion":[{"value":"2022-10-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}