4.5 Article

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda A case report

期刊

MEDICINE
卷 100, 期 11, 页码 -

出版社

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MD.0000000000025169

关键词

growth hormone; short stature; skeletal dysplasia; TRAPPC2; X-linked spondyloepiphyseal eysplasiat tarda

资金

  1. National Key Research and Development Program of China [2016YFC1305301]
  2. National Natural Science Foundation of China [81570759, 81270938]
  3. Fundamental Research Funds for the Central Universities [2020XZZX002-22]
  4. Research Fund of Zhejiang Major Medical and Health Science and Technology & National Ministry of Health [WKJ-ZJ-1804]
  5. Zhejiang Provincial Natural Science Foundation of China [LQ20H070003]
  6. Zhejiang Provincial Key Science and Technology Project [LGF21H070004, PEGRF201809002]

向作者/读者索取更多资源

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause of short stature in childhood. This case report identified a novel missense variant in the TRAPPC2 gene, and the patient showed height gain with growth hormone treatment but had to stop due to elevated glucose levels.
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.

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