{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Li X"],"funding":["National Natural Science Foundation of China"],"pagination":["e11774"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9699963"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(11)"],"pubmed_abstract":["Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small-insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in <i>TBX5</i> gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small-insertion in <i>TBX5</i> coding sequence was identified and speculated to be the disease-causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS."],"journal":["Heliyon"],"pubmed_title":["Identification of a novel <i>TBX5</i> mutation in a Chinese family with rare symptoms of Holt-Oram syndrome."],"pmcid":["PMC9699963"],"funding_grant_id":["81972038"],"pubmed_authors":["Li X","Wu J","Zhu M","Ding X","Li Y","Li J","Nong T","Shi W","Xu H","Yuan Z"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a novel <i>TBX5</i> mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.","description":"Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small-insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in <i>TBX5</i> gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small-insertion in <i>TBX5</i> coding sequence was identified and speculated to be the disease-causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-18T20:32:34.411Z","creation":"2025-04-07T08:25:11.17Z"},"accession":"S-EPMC9699963","cross_references":{"pubmed":["36444245"],"doi":["10.1016/j.heliyon.2022.e11774"]}}