{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:26:59Z","timestamp":1767842819713,"version":"3.49.0"},"reference-count":42,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high clinical variability with patients either missing cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients with milder symptoms were recently described. The TARP-locus was mapped to the gene RNA-binding motif protein 10 (RBM10) on the human X-chromosome. We clinically and genetically described a six-year-old boy with a TARP-phenotype. Clinical heterogeneity of symptoms prompted us to sequence the entire exome of this patient. We identified a novel splice variant (NM_005676: c.17+1G&gt;C, p.?) in RBM10. A patient-derived cell line was used to verify the pathogenicity of the RBM10 splice variant by RNA analyses, Western blotting, and immunofluorescence staining. Our molecular genetic findings together with the analyses of progressing clinical symptoms confirmed the diagnosis of TARP. It seems essential to analyze correlations between genotype, phenotype, and molecular\/cellular data to better understand RBM10-associated pathomechanisms, assist genetic counseling, and support development of therapeutic approaches.<\/jats:p>","DOI":"10.3390\/genes13112154","type":"journal-article","created":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T03:09:30Z","timestamp":1669000170000},"page":"2154","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10"],"prefix":"10.3390","volume":"13","author":[{"given":"Marta","family":"Owczarek-Lipska","sequence":"first","affiliation":[{"name":"Junior Research Group, Genetics of Childhood Brain Malformations, School of Medicine and Health Sciences, Faculty VI, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"},{"name":"Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"},{"name":"Research Center Neurosensory Science, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fenja","family":"Markus","sequence":"additional","affiliation":[{"name":"Junior Research Group, Genetics of Childhood Brain Malformations, School of Medicine and Health Sciences, Faculty VI, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"},{"name":"Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"B\u00fcltmann","sequence":"additional","affiliation":[{"name":"Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Carl-Neuberg-Stra\u00dfe 1, 30625 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Christoph","family":"Korenke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Children\u2019s Hospital, Klinikum Oldenburg, Rahel-Straus-Stra\u00dfe 10, 26133 Oldenburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Neidhardt","sequence":"additional","affiliation":[{"name":"Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"},{"name":"Research Center Neurosensory Science, University of Oldenburg, Ammerl\u00e4nder Heerstr. 114-118, 26129 Oldenburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.10201","article-title":"Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients","volume":"120A","author":"Kurpinski","year":"2003","journal-title":"Am. 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