biostudies-literatureZhang LJin Lei Pediatric Endocrinology Growth Research Fund for Young PhysiciansResearch Fund of Zhejiang Major Medical and Health Science and Technology &amp;amp; National Ministry of HealthNatural Science Foundation of Zhejiang ProvinceFundamental Research Funds for Central Universities of the Central South UniversityFundamental Research Funds for Central Universities of the Central South University (CN)Zhejiang Provincial Key Science and Technology ProjectNational Natural Science Foundation of ChinaResearch Fund of Zhejiang Major Medical and Health Science and Technology &amp; National Ministry of HealthNational Key Research and Development Program of ChinaNatural Science Foundation of Zhejiang Province (CN)e25169https://www.ebi.ac.uk/biostudies/studies/S-EPMC7982231biostudies-literatureUnknown100(11)<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 norMedicineA novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.PMC7982231LQ20H0700032020XZZX002-22WKJ-ZJ-1804LGF21H070004815707592016YFC1305301PEGRF20180900281270938Dong GZhang LWu DWu WWang JfalseA novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.<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 nor2021-01-01T00:00:00Z2021 Mar2025-04-21T23:32:54.818Z2025-04-05T19:14:16.742ZS-EPMC79822313372600510.1097/MD.0000000000025169