{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T09:19:05Z","timestamp":1769591945734,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["13DZ2260600"],"award-info":[{"award-number":["13DZ2260600"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive disorder due to isolated <jats:italic>PREPL<\/jats:italic> deficiency and characterized by neonatal hypotonia, muscular weakness, and feeding difficulties. Eight such cases have already been reported, while maternal uniparental disomy with a <jats:italic>PREPL<\/jats:italic> pathogenic mutation has never been involved.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio whole\u2010exome sequencing (WES), comparative genomic hybridization microarray (arry\u2010CGH), and Sanger sequencing were performed on a 6\u2010month\u2010old girl with severe neonatal hypotonia and feeding difficulties. Also, the phenotype and genotype of reported CMS22 patients were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this female infant, we identified a novel homozygous frameshift mutation in <jats:italic>PREPL<\/jats:italic> (c.1282_1285delTTTG, p.Phe428Argfs*18) by trio\u2010WES. Sanger sequencing confirmed that her mother was heterozygous and her father was normal. Trio\u2010WES data showed that 96.70% (1668\/1725) variants on chromosome 2 were homozygous and maternally inherited, suggesting maternal uniparental disomy of chromosome 2 [UPD(2)mat]. Array\u2010CGH did not show copy number variants (CNVs) but revealed complete UPD(2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To date, nine patients with CMS22 have been reported including our patient, and we report the youngest and the first UPD(2)mat with <jats:italic>PREPL<\/jats:italic> novel homozygous pathogenic mutation case, which expand the mutation spectrum of <jats:italic>PREPL<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1144","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T10:04:31Z","timestamp":1580119471000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["First maternal uniparental disomy for chromosome 2 with <i>PREPL<\/i> novel frameshift mutation of congenital myasthenic syndrome 22 in an infant"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2343-4189","authenticated-orcid":false,"given":"Ping","family":"Zhang","sequence":"first","affiliation":[{"name":"Center for Molecular Medicine Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Key Laboratory of Birth Defects Pediatrics Research Institute Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Key Laboratory of Birth Defects Pediatrics Research Institute Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulan","family":"Lu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine Children\u2019s Hospital of Fudan University 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8956-7238","authenticated-orcid":false,"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Key Laboratory of Birth Defects Pediatrics Research Institute Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Department of Neonates Key Laboratory of Neonatal Diseases Ministry of Health Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9992-6457","authenticated-orcid":false,"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Key Laboratory of Birth Defects Pediatrics Research Institute Children\u2019s Hospital of 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