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Thirty-five (poly)cystic and 72 non (poly)cystic individuals were enrolled. The latter subgroup of patients included Bardet-Biedl syndrome (BBS) patients, as major components.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Disease-causing mutations were identified in 51.5 and 40% of polycystic and non-polycystic individuals, respectively. Autosomal dominant polycystic kidney disease (ADPKD) patients with truncating\n                      <jats:italic>PKD1<\/jats:italic>\n                      variants showed a trend towards a greater slope of the age-estimated glomerular filtration rate (eGFR) regression line than patients with (i) missense variants, (ii) any\n                      <jats:italic>PKD2<\/jats:italic>\n                      mutations and (iii) no detected mutations, according to previous findings. The analysis of BBS individuals showed a similar frequency of\n                      <jats:italic>BBS4,9,10<\/jats:italic>\n                      and\n                      <jats:italic>12<\/jats:italic>\n                      mutations. Of note, all\n                      <jats:italic>BBS4-<\/jats:italic>\n                      mutated patients harbored the novel c.332+1G&gt;GTT variant, which was absent in public databases, however, in our internal database, an additional heterozygote carrier was found. All\n                      <jats:italic>BBS4-<\/jats:italic>\n                      mutated individuals originated from the same geographical area encompassing the coastal provinces of Naples.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>In conclusion, these findings indicate the potential for a genetic panel to provide useful information at both clinical and epidemiological levels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Graphic abstract<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1007\/s40620-021-01048-4","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T05:02:59Z","timestamp":1620450179000},"page":"1855-1874","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-2783","authenticated-orcid":false,"given":"Miriam","family":"Zacchia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Del Vecchio","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Trepiccione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Blasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Melluso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Capolongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Maria","family":"Pollastro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Di Iorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Viggiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Perna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovambattista","family":"Capasso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,5,8]]},"reference":[{"key":"1048_CR1","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for Mendelian disease gene discovery. 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