Abstract:chest. Heterozygous female carriers are usually clinically and radiographically normal.5) Radiologic evaluations can reveal narrow disc spaces and moderate epiphyseal dysplasia. These characteristic constellation of radiologic findings can be seen in the lateral view of the thoraco-lumbar spine; narrowing of inter vertebral disc spaces, and pathognomonic superior and inferior 'humps' involving the posterior two-thirds of the flattened ver tebral bodies.
6)In most cases, there's no specific or mild subjective s… Show more
“…The second patient was a 15-year-old boy referred for short stature and back pain. His clinical finding was previously reported [11]. His height was 146.8 cm (z-score − 4.3).…”
Section: Case Presentationsupporting
confidence: 58%
“…Sanger sequencing for TRAPPC2 revealed a hemizygous sequence variation, c.40delG, predicting p.Asp14Ile fs X27, which was inherited from the mother. She was short (146 cm, z-score − 3.12), but did not show any radiographic abnormality, back pain or joint pain [11]. Both variants were not annotated in dbSNP, 1000 Genomes database, the Genome Aggregation Database (gnomAD), NHLBI Exome Sequencing Project Exome Variant Server (EVS), or Exome Aggregation Consortium (ExAC) Browser.Fig.…”
Background
X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration.
TRAPPC2
gene, which is important for collagen secretion, has been reported as causative for SEDT-XL.
Case presentation
Here, we report two variants of
TRAPPC2
gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. To understand molecular consequence of the variants, we establish an in vitro gene expression assay system and demonstrate that both mutated genes are transcribed, but are not properly translated, indicative of the pathogenic nature of those
TRAPPC2
variants.
Conclusions
In the current study, we provide additional experimental data showing that loss-of-function
TRAPPC2
variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to
TRAPPC2
gene.
“…The second patient was a 15-year-old boy referred for short stature and back pain. His clinical finding was previously reported [11]. His height was 146.8 cm (z-score − 4.3).…”
Section: Case Presentationsupporting
confidence: 58%
“…Sanger sequencing for TRAPPC2 revealed a hemizygous sequence variation, c.40delG, predicting p.Asp14Ile fs X27, which was inherited from the mother. She was short (146 cm, z-score − 3.12), but did not show any radiographic abnormality, back pain or joint pain [11]. Both variants were not annotated in dbSNP, 1000 Genomes database, the Genome Aggregation Database (gnomAD), NHLBI Exome Sequencing Project Exome Variant Server (EVS), or Exome Aggregation Consortium (ExAC) Browser.Fig.…”
Background
X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration.
TRAPPC2
gene, which is important for collagen secretion, has been reported as causative for SEDT-XL.
Case presentation
Here, we report two variants of
TRAPPC2
gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. To understand molecular consequence of the variants, we establish an in vitro gene expression assay system and demonstrate that both mutated genes are transcribed, but are not properly translated, indicative of the pathogenic nature of those
TRAPPC2
variants.
Conclusions
In the current study, we provide additional experimental data showing that loss-of-function
TRAPPC2
variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to
TRAPPC2
gene.
“… 13 Genetic test was performed in the other cases, and they were reported as X-linked inheritance by the identification of a TRAPPC2 mutation. 14 15 The authors reviewed the SED tarda cases reported in Korea ( Table 1 ).…”
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.
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