A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report. Issue 11 (19th March 2021)

• Record Type: Journal Article
• Authors: Zhang, Li; Wang, Jinling; Dong, Guanping; Wu, Dingwen; Wu, Wei
• Other Names: Saranathan. Maya section editor.
• Is Part Of: Medicine. Volume 100:Issue 11(2021)
• Publication Date: 2021-03-19
• Subjects: growth hormone -- short stature -- skeletal dysplasia -- TRAPPC2 -- X-linked spondyloepiphyseal eysplasiat tarda; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000025169
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: 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. Patient concerns: A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years. Diagnosis: 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 normal. Interventions: Patient was treated with recombinant human growth hormone daily. Patient's height, glucose level, and possible progressive joint and back pain with osteoarthritis were under intensive observation regularly. Outcomes: The patient achieved 2.1 cm height gain over the first 3 months' recombinant human growth hormone treatment without joint or back pain. However, the therapy was terminated because of increased glucose level on follow-up. Lessons: The short stature is a noteworthy problem for X-linked SEDT cases. We report a novel missense variant site in TRAPPC2 treated with growth hormone in the literature. We do not recommend the use of recombinant human growth hormone on patients with X-linked SEDT for the concern of glucose homeostasis. Abstract : Supplemental Digital Content is available in the text