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BBS is a rare (~1\/140,000 to ~1\/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty\u2010eight genes involved in ciliary structure or function have been implicated in BBS, and explain the molecular basis for ~75%\u201380% of individuals. To investigate the mutational spectrum of BBS in Romania, we ascertained a cohort of 24 individuals in 23 families. Following informed consent, we performed proband exome sequencing (ES). We detected 17 different putative disease\u2010causing single nucleotide variants or small insertion\u2013deletions and two pathogenic exon disruptive copy number variants in known BBS genes in 17 pedigrees. The most frequently impacted genes were\n                    <jats:italic>BBS12<\/jats:italic>\n                    (35%), followed by\n                    <jats:italic>BBS4<\/jats:italic>\n                    ,\n                    <jats:italic>BBS7<\/jats:italic>\n                    , and\n                    <jats:italic>BBS10<\/jats:italic>\n                    (9% each) and\n                    <jats:italic>BBS1<\/jats:italic>\n                    ,\n                    <jats:italic>BBS2<\/jats:italic>\n                    , and\n                    <jats:italic>BBS5<\/jats:italic>\n                    (4% each). Homozygous\n                    <jats:italic>BBS12<\/jats:italic>\n                    p.Arg355* variants were present in seven pedigrees of both Eastern European and Romani origin. Our data show that although the diagnostic rate of BBS in Romania is likely consistent with other worldwide cohorts (74%), we observed a unique distribution of causal BBS genes, including overrepresentation of\n                    <jats:italic>BBS12<\/jats:italic>\n                    due to a recurrent nonsense variant, that has implications for regional diagnostics.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63322","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T07:14:42Z","timestamp":1686294882000},"page":"2376-2391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Exome sequencing in a Romanian\n                    <scp>Bardet\u2010Biedl<\/scp>\n                    syndrome cohort revealed an overabundance of causal\n                    <scp>\n                      <i>BBS12<\/i>\n                    <\/scp>\n                    variants"],"prefix":"10.1002","volume":"191","author":[{"given":"Sheraz","family":"Khan","sequence":"first","affiliation":[{"name":"Stanley Manne Children's Research Institute, Ann &amp; Robert H. 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Popa\u201d University of Medicine and Pharmacy  Ia\u0219i Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u0103cr\u0103mioara","family":"Butnariu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy  Ia\u0219i Romania"},{"name":"Regional Medical Genetics Centre \u201cSf. Maria\u201d Children's Hospital  Ia\u0219i Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"P\u00e2nzaru","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy  Ia\u0219i Romania"},{"name":"Regional Medical Genetics Centre \u201cSf. Maria\u201d Children's Hospital  Ia\u0219i Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Rusu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u201cGrigore T. 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