{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T08:26:30Z","timestamp":1760171190391,"version":"3.41.2"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"vor","delay-in-days":53,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005606","name":"Genome Institute of Singapore","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005606","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011738","name":"Lee Kong Chian School of Medicine, Nanyang Technological University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Bardet\u2010Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease\u2010causing variant\/s in patients exhibiting clinical features of BBS. <jats:italic>Methods<\/jats:italic>. The identification of disease\u2010causing variant was done by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche NimbleGen). The identified variant was further validated by Sanger sequencing. <jats:italic>Results<\/jats:italic>. WES revealed a novel homozygous missense mutation (NM_031885: c.443A&gt;T:p.N148I) in exon 3 of the <jats:italic>BBS2<\/jats:italic> gene. Sanger sequencing confirmed this variant as homozygous in both affected subjects and heterozygous in obligate parents, demonstrating autosomal recessive inheritance pattern. To the best of our knowledge, this variant was not present in literature and all publically available databases. The candidate variant is predicted to be pathogenic by a set of in\u2010silico softwares. <jats:italic>Conclusion<\/jats:italic>. Clinical and genetic spectrum of BBS and BBS\u2010like disorders is not completely defined in the Pakistani as well as in Kashmiri population. Therefore, more comprehensive genetic studies are required to gain insights into genotype\u2010phenotype associations to facilitate carrier screening and genetic counseling of families with such disorders.<\/jats:p>","DOI":"10.1155\/2021\/6626015","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T02:50:10Z","timestamp":1614135010000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel Homozygous Missense (c.443A&gt;T:p.N148I) Mutation in <i>BBS2<\/i> in a Kashmiri Family with Bardet\u2010Biedl 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