{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:55:45Z","timestamp":1792695345544,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>NALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). Mutations in <jats:italic>UNC80<\/jats:italic> were previously linked to infantile hypotonia with psychomotor retardation and characteristics facies 2. A 6\u2010year\u2010old male with neurodevelopmental disorder was referred for clinical exome sequencing. Sanger sequencing was conducted for variant confirmation and segregation analysis. The index had severe to profound neurodevelopmental delay, progressive failure to thrive, severe constipation and reflux, and sociable skills. Trio exome sequencing identified a homozygous c.6495G\u2009&gt;\u2009A change causing p.Trp2165Ter in <jats:italic>UNC80<\/jats:italic> in the proband. The variant was novel and predicted to be deleterious. We reported a novel nonsense mutation in <jats:italic>UNC80<\/jats:italic>. Our case also established the association between, and sociable skills and severe gastrointestinal problems.<\/jats:p>","DOI":"10.1002\/ajmg.a.63213","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T11:49:25Z","timestamp":1681732165000},"page":"1959-1962","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel nonsense mutation in <i>UNC80<\/i> in a <scp>T<\/scp>urkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1002-7138","authenticated-orcid":false,"given":"Fatih M.","family":"Kelesoglu","sequence":"first","affiliation":[{"name":"Pediatrician  Lossburg Baden\u2010Wurttemberg Germany"},{"name":"Kolan International Hospital, Division of Pediatrics  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahsum","family":"Kaya","sequence":"additional","affiliation":[{"name":"School of Medicine University of Pamukkale  Pamukkale Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebrar Tuba","family":"Sayili","sequence":"additional","affiliation":[{"name":"School of Medicine University of Istanbul  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1929-5"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb1330"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.03.063"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-30403-7"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101634"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-04313-5"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.01.049"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.02.041"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.09.014"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-018-0200-z"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103352"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.013"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.004"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.747422"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37929"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.01.018"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T02:49:37Z","timestamp":1722394177000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,17]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ajmg.a.63213"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63213","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,17]]},"assertion":[{"value":"2023-03-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}