{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:13:08Z","timestamp":1791043988139,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Bardet\u2010Biedl syndrome (BBS) is characterized by a heterogeneous phenotypic spectrum of retinopathy, intellectual disability (ID), obesity, polydactyly, and kidney dysfunctions as the major clinical features. Genetic investigations have reported 21 BBS genes, the products of which are mostly located at the centrosome, basal body or the ciliary transition zone.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present genetic report, we analyzed two apparently unrelated consanguineous BBS families from Dera Ismail Khan (D.I.Khan) district, Pakistan. Genetic mapping was performed using Whole exome sequencing and Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole exome sequencing identified a recently reported single base deletion NM_001033604.1:c.299delC in the fourth exon of <jats:italic>BBS9<\/jats:italic> in both families. The identified frameshift mutation is predicted to cause premature truncation of the expressed protein (p.Ser100Leufs*24). This mutation has previously been mapped in a consanguineous Pakistani family; therefore this is the second report of this particular mutation in two additional BBS families originating from different locations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan. Based on these findings, we suggest developing a molecular diagnostic test that may be used for premarital and prenatal screening of families at risk of BBS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.834","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T12:18:13Z","timestamp":1562847493000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Exome sequence analysis in consanguineous Pakistani families inheriting Bardet\u2010Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in <i>BBS9<\/i> gene"],"prefix":"10.1002","volume":"7","author":[{"given":"Muhammad","family":"Muzammal","sequence":"first","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Zubair","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Bierbaumer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Blatterer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricarda","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Gul","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safdar","family":"Abbas","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Badar","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansar Ahmad","family":"Abbasi","sequence":"additional","affiliation":[{"name":"Department of Zoology Mirpur University of Science and Technology (MUST) Mirpur Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8591-0377","authenticated-orcid":false,"given":"Muzammil Ahmad","family":"Khan","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Windpassinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/s8756-3282(98)00188-4"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711027105"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0271-9"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12737"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep34764"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.22074\/cellj.2018.5012"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101785"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3410\/f.718632624.793500623"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.834","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.834","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.834","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:03:16Z","timestamp":1692601396000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.834"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,11]]},"references-count":8,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/mgg3.834"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.834","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,11]]},"assertion":[{"value":"2019-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e834"}}