title: Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
abstract: X-linked spondylo-epiphyseal dysplasia tarda (SEDT) is an X-linked recessive, late-onset, progressive skeletal disorder characterized by mild-to-moderate short-trunked short stature. X-linked SEDT is caused by mutations in the gene TRAPPC2, which is located on chromosome Xp22. In the present study, we identified a novel splice-site mutation, c.93+1G>A, in TRAPPC2 in a 9-year-old Japanese patient who had X-linked SEDT and no family history of the disease. On reverse transcription-polymerase chain reaction, the mutation resulted in a 4 bp frame-shift insertion between exon 3 and exon 4. The present case highlights the importance of genetic analysis for confirmatory diagnosis of X-linked SEDT, especially in cases without a positive family history.
authors.affiliation: Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Adachi
authors.affiliation: Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takahashi
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors
keywords: TRAPPC2; X-linked spondylo-epiphyseal dysplasia tarda; short stature; skeletal dysplasia; splice-site mutation