{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:24:51Z","timestamp":1770744291589,"version":"3.49.0"},"reference-count":6,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, microcephaly, prematurity, and transient elevation of liver enzymes in infancy. Exome sequencing revealed one novel (c.65C&gt;A; p.Ala22Asp) and one ultra-rare (c.3214T&gt;C; p.Phe1072Leu) predicted damaging missense variant in <jats:italic>trans<\/jats:italic> in the gene encoding cytoplasmic valyl-tRNA synthetase (<jats:italic>VARS<\/jats:italic>). Biallelic variants in <jats:italic>VARS<\/jats:italic> have previously been associated with a neurodevelopmental disorder characterized by microcephaly, seizures, and cortical atrophy (NDMSCA; MIM #617802). Although our patients have no history of seizures or cortical atrophy, we suggest that the biallelic variants in <jats:italic>VARS<\/jats:italic> p.Ala22Asp and p.Phe1072Leu in this family are likely pathogenic and associated with NDMSCA, expanding the clinical phenotype of the condition.<\/jats:p>","DOI":"10.1101\/mcs.a003301","type":"journal-article","created":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T13:39:40Z","timestamp":1538401180000},"page":"a003301","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic variants in <i>VARS<\/i> in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature"],"prefix":"10.1101","volume":"4","author":[{"given":"Volkan","family":"Okur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mythily","family":"Ganapathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2018,10,1]]},"reference":[{"key":"2021112406072344000_4.5.a003301.1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2021112406072344000_4.5.a003301.2","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease","volume":"88","year":"2015","journal-title":"Neuron"},{"key":"2021112406072344000_4.5.a003301.3","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2021112406072344000_4.5.a003301.4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx231"},{"key":"2021112406072344000_4.5.a003301.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2021112406072344000_4.5.a003301.6","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s00439-018-1882-3","article-title":"Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy","volume":"137","year":"2018","journal-title":"Hum Genet"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a003301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T14:11:56Z","timestamp":1637763116000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a003301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":6,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,10,1]]},"published-print":{"date-parts":[[2018,10]]}},"alternative-id":["10.1101\/mcs.a003301"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a003301","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10]]}}}