{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang L"],"funding":["Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians","Research Fund of Zhejiang Major Medical and Health Science and Technology &amp;amp; National Ministry of Health","Natural Science Foundation of Zhejiang Province","Fundamental Research Funds for Central Universities of the Central South University","Fundamental Research Funds for Central Universities of the Central South University (CN)","Zhejiang Provincial Key Science and Technology Project","National Natural Science Foundation of China","Research Fund of Zhejiang Major Medical and Health Science and Technology &amp; National Ministry of Health","National Key Research and Development Program of China","Natural Science Foundation of Zhejiang Province (CN)"],"pagination":["e25169"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7982231"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["100(11)"],"pubmed_abstract":["<h4>Rationale</h4>X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare.<h4>Patient concerns</h4>A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years.<h4>Diagnosis</h4>X-linked SEDT was established by a combination of clinical and radiographic features, confirmed by targeted next-generation sequencing. Genetic testing of the TRAPPC2 gene revealed a novel missense variant with c.260A>C (p.H87P) hemizygote in exon5. The mother was found to be a heterozygous TRAPPC2 carrier, whereas the father was nor"],"journal":["Medicine"],"pubmed_title":["A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report."],"pmcid":["PMC7982231"],"funding_grant_id":["LQ20H070003","2020XZZX002-22","WKJ-ZJ-1804","LGF21H070004","81570759","2016YFC1305301","PEGRF201809002","81270938"],"pubmed_authors":["Dong G","Zhang L","Wu D","Wu W","Wang J"],"additional_accession":[]},"is_claimable":false,"name":"A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.","description":"<h4>Rationale</h4>X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare.<h4>Patient concerns</h4>A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years.<h4>Diagnosis</h4>X-linked SEDT was established by a combination of clinical and radiographic features, confirmed by targeted next-generation sequencing. Genetic testing of the TRAPPC2 gene revealed a novel missense variant with c.260A>C (p.H87P) hemizygote in exon5. The mother was found to be a heterozygous TRAPPC2 carrier, whereas the father was nor","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2025-04-21T23:32:54.818Z","creation":"2025-04-05T19:14:16.742Z"},"accession":"S-EPMC7982231","cross_references":{"pubmed":["33726005"],"doi":["10.1097/MD.0000000000025169"]}}