{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:59:16Z","timestamp":1780505956757,"version":"3.54.1"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 <jats:italic toggle=\"yes\">BBS<\/jats:italic> genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a <jats:italic toggle=\"yes\">BBS<\/jats:italic> gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the <jats:italic toggle=\"yes\">BBS7<\/jats:italic> gene revealed novel substitution mutation (c.719G&gt;T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000294","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T17:49:47Z","timestamp":1567187387000},"page":"17-23","source":"Crossref","is-referenced-by-count":6,"title":["A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family"],"prefix":"10.1097","volume":"29","author":[{"given":"Amir","family":"Hayat","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Life and Chemical Sciences, Abdul Wali khan University, Mardan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atif Ahmad","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Life and Chemical Sciences, Abdul Wali khan University, 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