{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Eisfeldt J"],"funding":["Swedish Foundation for Strategic Research","Stockholm Regional Council","Hjärnfonden","Strategic Research Program in Neuroscience at Karolinska Institutet","Swedish Research Council","Swedish Brain Foundation"],"pagination":["9392"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9408972"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(16)"],"pubmed_abstract":["Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, identify disrupted genes and, in symptomatic carriers, pinpoint the disease-causing mechanisms. Here, we report an individual with autism, epilepsy and osteoporosis and a de novo balanced reciprocal translocation: t(17;19) (p13;p11). The genomic DNA was analyzed by short-, linked- and long-read genome sequencing, as well as optical mapping. Transcriptional consequences were assessed by transcriptome sequencing of patient-specific neuroepithelial stem cells derived from induced pluripotent stem cell"],"journal":["International journal of molecular sciences"],"pubmed_title":["Multi-Omic Investigations of a 17-19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis."],"pmcid":["PMC9408972"],"funding_grant_id":["2017-02936","FO2021-0302","2019-01498","IB13-0074","2019-02078","FO2019-0246","FO2020-0351"],"pubmed_authors":["Stattin EL","Eisfeldt J","Schuy J","Falk A","Kvarnung M","Feuk L","Lindstrand A"],"additional_accession":[]},"is_claimable":false,"name":"Multi-Omic Investigations of a 17-19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis.","description":"Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, identify disrupted genes and, in symptomatic carriers, pinpoint the disease-causing mechanisms. Here, we report an individual with autism, epilepsy and osteoporosis and a de novo balanced reciprocal translocation: t(17;19) (p13;p11). The genomic DNA was analyzed by short-, linked- and long-read genome sequencing, as well as optical mapping. Transcriptional consequences were assessed by transcriptome sequencing of patient-specific neuroepithelial stem cells derived from induced pluripotent stem cell","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-04-08T11:28:14.687Z","creation":"2024-11-20T00:11:25.336Z"},"accession":"S-EPMC9408972","cross_references":{"pubmed":["36012658"],"doi":["10.3390/ijms23169392"]}}