{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Genovesi ML"],"pubmed_abstract":["Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. <i>FBN1</i>, <i>FBN2</i>, and <i>FBN3</i> encode the human fibrillins and mutations in <i>FBN1</i> and <i>FBN2</i> cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, <i>FBN3</i>, have been associated in a single family with Bardet-Biedl 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 <i>FBN3</i>-mutated family and fulfilled BBS clinical diagnostic c"],"journal":["Frontiers in genetics"],"pagination":["924362"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9334770"],"repository":["biostudies-literature"],"pubmed_title":["Case Report: A Novel Homozygous Missense Variant of <i>FBN3</i> Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype."],"pmcid":["PMC9334770"],"pubmed_authors":["Cesario C","Piscopo C","Mazza T","Genovesi ML","Goldoni M","Bernardini L","Salvo E","Majolo M","Torres B"],"additional_accession":[]},"is_claimable":false,"name":"Case Report: A Novel Homozygous Missense Variant of <i>FBN3</i> Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.","description":"Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. <i>FBN1</i>, <i>FBN2</i>, and <i>FBN3</i> encode the human fibrillins and mutations in <i>FBN1</i> and <i>FBN2</i> cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, <i>FBN3</i>, have been associated in a single family with Bardet-Biedl 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 <i>FBN3</i>-mutated family and fulfilled BBS clinical diagnostic c","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-18T20:19:25.809Z","creation":"2024-11-20T21:06:04.683Z"},"accession":"S-EPMC9334770","cross_references":{"pubmed":["35910214"],"doi":["10.3389/fgene.2022.924362"]}}