{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:24Z","timestamp":1787013804416,"version":"build-2736575974"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T00:00:00Z","timestamp":1595203200000},"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":["Annals of Human Genetics"],"published-print":{"date-parts":[[2021,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Bardet\u2013Biedl syndrome (BBS) is a very\u2010rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this study, while trying to elucidate the genetic etiology of seven individuals with clinical BBS diagnosis from six different families, we also aimed to examine the distribution of BBS variations in this region of Turkey.<\/jats:p>\n <\/jats:sec>\n \n Methods and materials<\/jats:title>\n Exome sequencing analysis is performed for clinically diagnosed patients with BBS in the present study followed by parental segregation. The unreported and previously described clinical features are presented.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Homozygous variants, four of which are unreported, in BBS\u2010related genes (\n BBS5 [c.682\u20102A\u00a0><\/jats:italic>\n \u00a0\n G]<\/jats:italic>\n ,\n MKKS [c.775del]<\/jats:italic>\n ,\n BBS7 [c.849+1G\u00a0><\/jats:italic>\n \u00a0\n T]<\/jats:italic>\n ,\n BBS9 [c.965G\u00a0><\/jats:italic>\n \u00a0\n A]<\/jats:italic>\n ,\n BBS10 [c.145C\u00a0><\/jats:italic>\n \u00a0\n T]<\/jats:italic>\n ,\n LZTFL1[c.384G\u00a0><\/jats:italic>\n \u00a0\n A]<\/jats:italic>\n ) are detected for all the seven individuals included in the study. The most common clinical finding is polydactyly followed by renal anomalies. The clinical features not previously described are correlated to the unreported variant.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n In this study, exome sequencing findings are discussed and four previously unreported disease\u2010associated variants are described including the fifth BBS\u2010implicated\n LZTFL1<\/jats:italic>\n change and possible genotype\u2013phenotype correlation is described.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ahg.12401","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T04:59:43Z","timestamp":1595221183000},"page":"27-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and exome sequencing findings in seven children with Bardet\u2013Biedl syndrome from Turkey"],"prefix":"10.1111","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9932-0730","authenticated-orcid":false,"given":"Evren","family":"Gumus","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine University of Harran Sanliurfa Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine University of Mugla Sitki Kocman Mugla Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru","family":"Tuncez","sequence":"additional","affiliation":[{"name":"Clinic of Medical Genetics Sanliurfa Training and Research Hospital Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Oz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine University of Harran Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve","family":"Saka Guvenc","sequence":"additional","affiliation":[{"name":"Genetic Diagnosis Center, Tepecik Training and Research Hospital University of Health Sciences Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070755"},{"issue":"76","key":"e_1_2_10_3_1","article-title":"Predicting functional effect of human missense mutations using PolyPhen\u20102","volume":"0","author":"Adzhubei I.","year":"2013","journal-title":"Current Protocols in Human Genetics"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03325331"},{"issue":"3","key":"e_1_2_10_6_1","first-page":"411","article-title":"The 3rd W522X mutation in EIF2AK3 gene from Turkey: A new patient with Wolcott\u2010Rallison syndrome","volume":"27","author":"Bahsi T.","year":"2016","journal-title":"Genetic Counseling"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2007.00278.x"},{"issue":"6","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet\u2010Biedl syndrome: Results of a population survey","volume":"36","author":"Beales P. 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