{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T10:09:48Z","timestamp":1790762988990,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T00:00:00Z","timestamp":1473379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Wiedemann\u2013Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare condition with fewer than 40 patients reported in the literature. Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and lipoatrophy; in addition, neonatal teeth are often a distinctive finding. The inheritance pattern of this disorder has been postulated to be autosomal recessive, although a specific gene has not been identified. Here we report an infant with the characteristic phenotypic features of Wiedemann\u2013Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in <jats:italic>POLR3A<\/jats:italic>: c.1909+18G&gt;A; p.(Y637Cfs*23) and c.2617C&gt;T; p.(R873*). Mutations in <jats:italic>POLR3A<\/jats:italic> (OMIM #614258) are associated with 4H leukodystrophy syndrome characterized by the triad of hypomyelination, hypodontia, and hypogonadotrophic hypogonadism. The present patient's genotype implies a broader phenotypic range for <jats:italic>POLR3A<\/jats:italic> mutations and might expand the clinical spectrum. This proband is notable because she had two null pathogenic variants. Replication in other patients clinically diagnosed with Wiedemann\u2013Rautenstrauch syndrome is needed to further demonstrate this gene\u2010disease association. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37960","type":"journal-article","created":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T21:18:12Z","timestamp":1473455892000},"page":"3343-3346","source":"Crossref","is-referenced-by-count":47,"title":["Neonatal progeriod syndrome associated with biallelic truncating variants in <i>POLR3A<\/i>"],"prefix":"10.1002","volume":"170","author":[{"given":"Allison M.","family":"Jay","sequence":"first","affiliation":[{"name":"Department of Cancer Genetics St. John Hospital Grosse Pointe Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert L.","family":"Conway","sequence":"additional","affiliation":[{"name":"Children's Hospital of Michigan Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Thiffault","sequence":"additional","affiliation":[{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Saunders","sequence":"additional","affiliation":[{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Farrow","sequence":"additional","affiliation":[{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Adams","sequence":"additional","affiliation":[{"name":"Department of Cancer Genetics St. John Hospital Grosse Pointe Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helga V.","family":"Toriello","sequence":"additional","affiliation":[{"name":"Spectrum Health Hospitals Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34019"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20166"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2014.156"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.434"},{"key":"e_1_2_8_7_1","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RCM","year":"2010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35336"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1530"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002612"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<131::AID-AJMG9>3.0.CO;2-E"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00477545"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3004041"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-40084"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441901"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001002"}],"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.37960","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37960","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:42:48Z","timestamp":1696642968000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,9]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37960"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37960","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,9]]}}}