{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:40:14Z","timestamp":1789904414354,"version":"4.0.1"},"reference-count":43,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,5,7]],"date-time":"2018-05-07T00:00:00Z","timestamp":1525651200000},"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":[[2018,7]]},"abstract":"<jats:p>Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%\u20133% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however, the exact role of genetic involvement in ID is yet to be determined. Whole exome sequencing (WES) has gained popularity in the workup for ID, and multiple studies have been published examining the diagnostic yield in identification of the disease\u2010causing variant (16%\u201355%), with the genetic involvement increasing as intelligence quotient decreases. WES has also accelerated novel disease gene discovery in this field. We identified a novel biallelic variant in the <jats:italic>KIF16B<\/jats:italic> gene (NM_024704.4:c.3611T\u2009&gt;\u2009G) in two brothers that may be the cause of their phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.38723","type":"journal-article","created":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T06:25:10Z","timestamp":1525760710000},"page":"1602-1609","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<i>KIF16B<\/i> is a candidate gene for a novel autosomal\u2010recessive intellectual disability syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8324-5203","authenticated-orcid":false,"given":"Saud","family":"Alsahli","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdulaziz Medical City, Ministry of National Guard\u2010Health Affairs (MNGHA) Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan T.","family":"Arold","sequence":"additional","affiliation":[{"name":"King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC) Division of Biological and Environmental Sciences and Engineering (BESE) Thuwal Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Alfares","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine King Abdul Aziz Medical City, Ministry of National Guard Health Affairs Riyadh Saudi Arabia"},{"name":"Department of Pediatrics Qassim University Almulyda Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2910-0390","authenticated-orcid":false,"given":"Mohammed","family":"Al Balwi","sequence":"additional","affiliation":[{"name":"King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia"},{"name":"Department of Pathology and Laboratory Medicine King Abdul Aziz Medical City, Ministry of National Guard Health Affairs Riyadh Saudi Arabia"},{"name":"College of Medicine King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u2010Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Nijmegen, Department of Medical Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waleed","family":"Al\u2010Twaijri","sequence":"additional","affiliation":[{"name":"King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia"},{"name":"College of Medicine King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"},{"name":"Division of Pediatric Neurology, Department of Pediatrics King Abdulaziz Medical City, Ministry of National Guard\u2010Health Affairs (MNGHA) Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdulaziz Medical City, Ministry of National Guard\u2010Health Affairs (MNGHA) Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia"},{"name":"College of Medicine King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2016.113"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.251"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601800"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0328-0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI43639"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.623"},{"issue":"5","key":"e_1_2_6_10_1","first-page":"1086","article-title":"Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12","volume":"57","author":"Engle E. C.","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4240-14.2015"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12301"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20920"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2774"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.02.017"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-010-9055-2"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl012"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)03070-6"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20478"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2010.12.018"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182345896"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.015"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1839"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2016.06.009"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22450"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2613"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.826"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.013"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37789"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12831"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.6.1630"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32476"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060308"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1648608"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.118.8.1090"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23188"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304063"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.236"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2010.11.008"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200507000-00001"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102182"}],"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.38723","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38723","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38723","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38723","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T04:38:25Z","timestamp":1694407105000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,7]]},"references-count":43,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1002\/ajmg.a.38723"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38723","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,7]]},"assertion":[{"value":"2017-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}