{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T06:55:02Z","timestamp":1785826502034,"version":"3.56.0"},"reference-count":37,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T00:00:00Z","timestamp":1657843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. <jats:italic>FBN1<\/jats:italic>, <jats:italic>FBN2<\/jats:italic>, and <jats:italic>FBN3<\/jats:italic> encode the human fibrillins and mutations in <jats:italic>FBN1<\/jats:italic> and <jats:italic>FBN2<\/jats:italic> cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, <jats:italic>FBN3<\/jats:italic>, have been associated in a single family with Bardet\u2013Biedl syndrome (BBS). Here, we report on a patient born from two first cousins and affected by developmental delay, cognitive impairment, obesity, dental and genital anomalies, and brachydactyly\/syndactyly. His phenotype was very similar to that reported in the previous <jats:italic>FBN3<\/jats:italic>-mutated family and fulfilled BBS clinical diagnostic criteria, although lacking polydactyly, the most recurrent clinical feature, as the previous siblings described. A familial SNP-array and proband\u2019s WES were performed prioritizing candidate variants on the sole patient\u2019s runs of homozygosity. This analysis disclosed a novel homozygous missense variant in <jats:italic>FBN3<\/jats:italic> (NM_032447:c.5434A&amp;gt;G; NP_115823:p.Ile1812Val; rs115948457), inherited from the heterozygous parents. This study further supports that <jats:italic>FBN3<\/jats:italic> is a candidate gene for a BBS-like syndrome characterized by developmental delay, cognitive impairment, obesity, dental, genital, and skeletal anomalies. Anyway, additional studies are necessary to investigate the exact role of the gene and possible interactions between FBN3 and BBS proteins.<\/jats:p>","DOI":"10.3389\/fgene.2022.924362","type":"journal-article","created":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T06:17:43Z","timestamp":1657865863000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet\u2013Biedl Syndrome\u2013Like Phenotype"],"prefix":"10.3389","volume":"13","author":[{"given":"Maria Luce","family":"Genovesi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Goldoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliana","family":"Salvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cesario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Majolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Piscopo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1007\/s00439-013-1344-x","article-title":"The Application of Next-Generation Sequencing in the Autozygosity Mapping of Human Recessive Diseases","volume":"132","author":"Alkuraya","year":"2013","journal-title":"Hum. 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