{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:46:02Z","timestamp":1789393562100,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T00:00:00Z","timestamp":1486598400000},"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":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Newer sequencing technologies decipher molecular variations and increase the knowledge of pathogenesis of complex diseases like intellectual disability (ID), affecting 2\u20133% of the population. We report a novel family with a missense mutation in <jats:italic>LINS1<\/jats:italic> as a cause for non\u2010syndromic ID. Clinical exome sequencing for ID related genes carried out for a male with dysmorphism, mutism, and cognitive delay was uninformative. Subsequently, \u201cpathogenic\u201d and \u201clikely pathogenic\u201d variants associated with other inherited disorders were searched for as secondary findings. Further, PCR\u2010RFLP carried out in other family members confirmed the result. A novel missense variant (c.937G&gt;A) in exon 5 of <jats:italic>LINS1<\/jats:italic> was detected in the proband. His affected elder brother was homozygous and the parents were heterozygous respectively, for the mutation. No mutation was observed in his unaffected sister. Mutations in <jats:italic>LINS1<\/jats:italic> were suspected in this non\u2010syndromic ID case with mutism. <jats:italic>LINS1<\/jats:italic> alterations affect <jats:italic>ELAV1<\/jats:italic> expression and result in reduction in the commissural axonal growth, thus affecting peripheral and central neuronal function. <jats:italic>LINS1<\/jats:italic> acts in association with \u03b2\u2010catenin to influence <jats:italic>WNT1<\/jats:italic> signaling. It is hypothesized that mutations in <jats:italic>LINS1<\/jats:italic> may alter HuR expression during neural differentiation, leading to ID in humans. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38089","type":"journal-article","created":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T08:19:10Z","timestamp":1486628350000},"page":"1041-1046","source":"Crossref","is-referenced-by-count":12,"title":["Novel <i>LINS1<\/i> missense mutation in a family with non\u2010syndromic intellectual disability"],"prefix":"10.1002","volume":"173","author":[{"given":"Jayesh","family":"Sheth","sequence":"first","affiliation":[{"name":"FRIGE's Institute of Human Genetics Ahmedabad Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gyan","family":"Ranjan","sequence":"additional","affiliation":[{"name":"Department of Genetic Engineering SRM University Kattankulathur Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krati","family":"Shah","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics Ahmedabad Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riddhi","family":"Bhavsar","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics Ahmedabad Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frenny","family":"Sheth","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics Ahmedabad Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2009.67"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-87"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1204"},{"key":"e_1_2_7_6_1","first-page":"1059","article-title":"Identification and evaluation of mental retardation","volume":"61","author":"Daily DK","year":"2000","journal-title":"Am Fam Physician"},{"key":"e_1_2_7_7_1","unstructured":"FlyBase (FB2016_05 released October 18 2016) Homepage.http:\/\/flybase.org\/(accessed 19 Jul 2016)."},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.11.1364"},{"key":"e_1_2_7_9_1","first-page":"155","article-title":"Molecular cloning and characterization of human WINS1 and mouse Wins2, homologous to Drosophila segment polarity gene lines (Lin)","volume":"10","author":"Katoh M","year":"2002","journal-title":"Int J Mol Med"},{"key":"e_1_2_7_10_1","unstructured":"LINS1 [gene] \u2010 ClinVar \u2010https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=LINS1[gene](accessed 19 Jul)2016)."},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr1114"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.101519"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.09.028"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.5"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0862-13.2014"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2902"}],"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.38089","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:35:55Z","timestamp":1696552555000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,9]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/ajmg.a.38089"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38089","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,9]]}}}