{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T14:26:09Z","timestamp":1776435969753,"version":"3.51.2"},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["398268"],"award-info":[{"award-number":["398268"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Ophthalmological Medicine"],"published-print":{"date-parts":[[2022,7,21]]},"abstract":"<jats:p>Bardet\u2013Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet\u2013Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T&gt;G, p.L399X) and BBS7 genes (c.1636C&gt;T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alstr\u00f6m syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alstr\u00f6m syndrome.<\/jats:p>","DOI":"10.1155\/2022\/6110775","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T01:20:17Z","timestamp":1658452817000},"page":"1-6","source":"Crossref","is-referenced-by-count":3,"title":["Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet\u2013Biedl Syndrome"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5334-6935","authenticated-orcid":true,"given":"Roghayeh","family":"Dehghan","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4735-6253","authenticated-orcid":true,"given":"Mahdiyeh","family":"Behnam","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6565-0907","authenticated-orcid":true,"given":"Mansoor","family":"Salehi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7455-1495","authenticated-orcid":true,"given":"Roya","family":"Kelishadi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-017-2502-2"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00023"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.18502\/ajmb.v13i4.7214"},{"key":"4","article-title":"Base Rd","year":"2022"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015091029"},{"issue":"11-12","key":"6","doi-asserted-by":"crossref","first-page":"194433","DOI":"10.1016\/j.bbagrm.2019.194433","article-title":"Splicing in the pathogenesis, diagnosis and treatment of ciliopathies","volume":"1862","author":"G. 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Tahani","year":"2003","journal-title":"Orphanet Journal of Rare Diseases"}],"container-title":["Case Reports in Ophthalmological Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/criopm\/2022\/6110775.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/criopm\/2022\/6110775.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/criopm\/2022\/6110775.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T01:20:20Z","timestamp":1658452820000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/criopm\/2022\/6110775\/"}},"subtitle":[],"editor":[{"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,7,21]]},"references-count":15,"alternative-id":["6110775","6110775"],"URL":"https:\/\/doi.org\/10.1155\/2022\/6110775","relation":{},"ISSN":["2090-6730","2090-6722"],"issn-type":[{"value":"2090-6730","type":"electronic"},{"value":"2090-6722","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7,21]]}}}