{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:00:00Z","timestamp":1790481600156,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["26\u201313"],"award-info":[{"award-number":["26\u201313"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K09970"],"award-info":[{"award-number":["16K09970"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios, macrosomia, distinctive facial appearance, renal dysplasia, and a predisposition to Wilms\u2019 tumor. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long\u2010term survivors. We studied a 6\u2010year\u2010old Japanese female patient, who was diagnosed with Perlman syndrome, with novel compound heterozygous mutations in <jats:italic>DIS3L2<\/jats:italic> (c.[367\u20102A\u2009&gt;\u2009G];[1328T\u2009&gt;\u2009A]), who has survived long term. Most reported <jats:italic>DIS3L2<\/jats:italic> mutations have been the homozygous deletion of exon 6 or exon 9, and these mutations would certainly have caused the loss of both RNA binding and degradation activity. We have identified new compound heterozygous mutations in the <jats:italic>DIS3L2<\/jats:italic> of this long\u2010term survivor of Perlman syndrome. The reason our patient has survived long\u2010term would be a missense mutation (c.1328 T\u2009&gt;\u2009A, p.Met443Lys) having retained RNA binding in both the cold\u2010shock domains and the S1 domain, and through partial RNA degradation. If partial exonuclease functions remain in at least one allele, long\u2010term survival may be possible. Further studies of Perlman syndrome patients with proven <jats:italic>DIS3L2<\/jats:italic> mutations are needed to clarify genotype\u2010phenotype correlation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38111","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1077-1081","source":"Crossref","is-referenced-by-count":12,"title":["Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of <i>DIS3L2<\/i>"],"prefix":"10.1002","volume":"173","author":[{"given":"Noriko","family":"Soma","sequence":"first","affiliation":[{"name":"Department of Homeostatic Regulation and Development Graduate School of Medical and Dental Sciences Niigata University Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Higashimoto","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Division of Molecular Genetics and Epigenetics Department of Biomolecular Sciences Saga University Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Homeostatic Regulation and Development Graduate School of Medical and Dental Sciences Niigata University Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Department of Homeostatic Regulation and Development Graduate School of Medical and Dental Sciences Niigata University Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenobu","family":"Soejima","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Division of Molecular Genetics and Epigenetics Department of Biomolecular Sciences Saga University Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[{"name":"Department of Homeostatic Regulation and Development Graduate School of Medical and Dental Sciences Niigata University Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32391"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1071"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12119"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13553"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.45"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197004)25:4<885::AID-CNCR2820250420>3.0.CO;2-#"},{"key":"e_1_2_5_8_1","first-page":"41","article-title":"Slowing down the ras lane: MiRNAs as tumor suppressors","volume":"297","author":"Morris JP.","year":"2005","journal-title":"Science STKE"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31358"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190120"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250418"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80264-1"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197504)35:4<1212::AID-CNCR2820350427>3.0.CO;2-2"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30994"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.04.026"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38111","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:36:14Z","timestamp":1696552574000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,22]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/ajmg.a.38111"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38111","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,22]]}}}