{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T05:39:31Z","timestamp":1780637971074,"version":"3.54.1"},"reference-count":53,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T00:00:00Z","timestamp":1684454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Bardet\u2013Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod\u2013cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, and obesity. Here, we report nine consanguineous families and a non-consanguineous family with several affected individuals presenting typical clinical features of BBS. In the present study, 10 BBS Pakistani families were subjected to whole exome sequencing (WES), which revealed novel\/recurrent gene variants, including a homozygous nonsense mutation (c.94C&gt;T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A, a homozygous nonsense mutation (c.160A&gt;T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B, a homozygous nonsense variant (c.720C&gt;A; p.Cys240Ter) in the WDPCP (NM_015910.7) in family C, a homozygous nonsense variant (c.505A&gt;T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D, pathogenic homozygous 1 bp deletion (c.775delA; p.Thr259Leufs*21) in the MKKS\/BBS5 (NM_170784.3) gene in family E, a pathogenic homozygous missense variant (c.1339G&gt;A; p.Ala447Thr) in BBS1 (NM_024649.4) in families F and G, a pathogenic homozygous donor splice site variant (c.951+1G&gt;A; p?) in BBS1 (NM_024649.4) in family H, a pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C&gt;G; p.Ser40*) in family I, and homozygous pathogenic frameshift variants (c.196delA; p.Arg66Glufs*12) in BBS5 (NM_152384.3) in family J. Our findings extend the mutation and phenotypic spectrum of four different types of ciliopathies causing BBS and also support the importance of these genes in the development of multi-systemic human genetic disorders.<\/jats:p>","DOI":"10.3390\/genes14051113","type":"journal-article","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T10:08:55Z","timestamp":1684490935000},"page":"1113","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet\u2013Biedl Syndrome"],"prefix":"10.3390","volume":"14","author":[{"given":"Hamed","family":"Nawaz","sequence":"first","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Mujahid","sequence":"additional","affiliation":[{"name":"Center of Animal Nutrition, Directorate General of Livestock & Dairy Development, Peshawar 25000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5436-8917","authenticated-orcid":false,"given":"Sher Alam","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farhana","family":"Bibi","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Waqas","sequence":"additional","affiliation":[{"name":"Department Zoology, Division of Science and Technology, University of Education, Lahore 54782, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Bari","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Fardous","sequence":"additional","affiliation":[{"name":"Department of Medical Lab Technology (MLT), Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niamatullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-1703","authenticated-orcid":false,"given":"Nazif","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4149-9544","authenticated-orcid":false,"given":"Amjad","family":"Khan","sequence":"additional","affiliation":[{"name":"Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat 28420, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohail Aziz","family":"Paracha","sequence":"additional","affiliation":[{"name":"Department of Anatomy, KMU Institute of Medical Sciences (KIMS), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qamre","family":"Alam","sequence":"additional","affiliation":[{"name":"Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Block Zinj, Manama 359, Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0180-3441","authenticated-orcid":false,"given":"Mohammad Azhar","family":"Kamal","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Al-kharj 11942, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7219-9149","authenticated-orcid":false,"given":"Misbahuddin M.","family":"Rafeeq","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fayaz Ul","family":"Haq","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 12271, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Khan","sequence":"additional","affiliation":[{"name":"Hafeez Institute of Medical Sciences, Islamabad 44000, Pakistan"},{"name":"Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0309-1230","authenticated-orcid":false,"given":"Arif","family":"Mahmood","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh 12271, Saudi Arabia"},{"name":"Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore 14611, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. 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