{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T00:36:44Z","timestamp":1788568604616,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G\u2009&gt;\u2009T (p.Glu39*) in\n                    <jats:italic>FAM160B1<\/jats:italic>\n                    in a 38\u2010year\u2010old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248\u2009T\u2009&gt;\u2009C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7\u2010year\u2010old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm\n                    <jats:italic>FAM160B1<\/jats:italic>\n                    , with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the\n                    <jats:italic>FAM160B1\u2010<\/jats:italic>\n                    related ID, and describe the disease in a much older age.\n                  <\/jats:p>","DOI":"10.1111\/cge.13612","type":"journal-article","created":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:19:10Z","timestamp":1564359550000},"page":"456-460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems"],"prefix":"10.1111","volume":"96","author":[{"given":"Rezan Nehir","family":"Mavio\u011flu","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00fclent","family":"Kara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology Medical Faculty, Kocaeli University  Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcr","family":"Akansel","sequence":"additional","affiliation":[{"name":"Department of Radiology, Medical Faculty Kocaeli University  Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6khan","family":"Nalbant","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0328-6046","authenticated-orcid":false,"given":"Asl\u0131han","family":"Tolun","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","year":"2013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304063"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2016.113"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-10"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu703"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.181008"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","first-page":"491","DOI":"10.7555\/JBR.29.20150034","article-title":"A susceptibility locus rs7099208 is associated with non\u2010obstructive azoospermia via reduction in the expression of FAM160B1","volume":"29","author":"Zhang Y","year":"2015","journal-title":"J Biomed Res"}],"container-title":["Clinical 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