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KMID : 1100820240140010052
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Laboratory Medicine Online
2024 Volume.14 No. 1 p.52 ~ p.55
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Interpretation of the TRAPPC2 Mutation Found in a Child with Short Stature Using a Functional Study: A Case Report
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Lee So-Jin Lee
Kim Su-Jin
Won Dong-Ju
Shin Sae-Am
Kwon Ah-Reum
Lee Seung-Tae
Choi Jong-Rak
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Abstract
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Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, X-chromosome-linked recessive osteochondrodysplasia caused by mutations in the TRAPPC2 gene. Molecular methods are helpful for diagnosis because short stature and degenerative joint diseases develop in late childhood. We report a case of interpreting the pathogenicity of TRAPPC2 gene mutation, which includes intronic region deletion, using a functional study. The conflicting results of mRNA sequencing and the automated program predicting splice mutations emphasize the importance of functional studies.
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KEYWORD
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TRAPPC2, Spondyloepiphyseal dysplasia tarda, Short stature, Functional study
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