A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
نویسندگان
چکیده
Masaki Takagi1, 2, Hiroko Yagi3, Yoshie Nakamura3, Hiroyuki Shinohara2, Ryojun Takeda2, Aya Shimada2, Gen Nishimura4, and Yukihiro Hasegawa2, 3 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Genetic Research, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4 Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
منابع مشابه
X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into...
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Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns. We conducted whole exome sequencing of a Turkish male with a suspected X-linked skeletal dysplasia of unknown etiology as well as his unaffected mother and maternal uncle. Bioinformatic filtering of variants implicated in skeletal system development r...
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STUDY DESIGN Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect. OBJECTIVES To report the typical radiologic presentation of patients with X-linked spondyloepiphyseal dysplasia tarda and the diagnostic tool of mutatio...
متن کاملMutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is ...
متن کاملBiochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
SEDT (spondyloepiphyseal dysplasia tarda) is a late-onset X-linked recessive skeletal dysplasia caused by mutations in the gene SEDL coding for sedlin. In the present paper, we investigated four missense mutations observed in SEDT and compare biochemical and cellular characteristics relative to the wild-type protein to address the mechanism of disease and to gain insight into the function of th...
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