{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hofrichter MAH"],"funding":["Julius-Maximilians-Universität Würzburg"],"pagination":["81"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5960148"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(1)"],"pubmed_abstract":["<h4>Background</h4>Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family.<h4>Methods</h4>Whole exome sequencing and bioinformatics analysis of 116 hearing loss-associated genes was performed in an affected individual from a five generation Iranian family. Segregation analysis and 3D protein modeling of the p.Arg10"],"journal":["BMC medical genetics"],"pubmed_title":["The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family."],"pmcid":["PMC5960148"],"funding_grant_id":["NA"],"pubmed_authors":["Hosseini NS","Maroofian R","Rajati M","Dittrich M","Haaf T","Eslahi A","Hofrichter MAH","Muller T","Grimm C","Doll J","Vona B","Mojarad M"],"additional_accession":[]},"is_claimable":false,"name":"The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.","description":"<h4>Background</h4>Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family.<h4>Methods</h4>Whole exome sequencing and bioinformatics analysis of 116 hearing loss-associated genes was performed in an affected individual from a five generation Iranian family. Segregation analysis and 3D protein modeling of the p.Arg10","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 May","modification":"2026-04-30T06:44:31.01Z","creation":"2019-03-26T23:39:15Z"},"accession":"S-EPMC5960148","cross_references":{"pubmed":["29776397"],"doi":["10.1186/s12881-018-0598-5"]}}