鎖骨頭蓋骨異形成症におけるRUNX 2遺伝子のミスセンス変異

DOI 参考文献24件

書誌事項

タイトル別名
  • Missense Mutation in the RUNX 2 Gene in A Patient with Cleidocranial Dysplasia

この論文をさがす

抄録

Cleidocranial dysplasia is an autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late erupting secondary dentition, short stature, and rudimentary clavicles.The locus for this disease was mapped to chromosome 6p21. Mutations in the RUNX2 gene has been shown to cause cleidocranial dysplasia. RUNX2 is a member of the runt family of transcription factors and its expression is found in developing osteoblasts and chondrocytes. An 8-year-old Japanese male with the clinical diagnosis of cleidocranial dysplasia was the subject of this study. His clinical description included delayed closure of sutures, late erupting secondary dentition, and hypoplastic clavicles.We did not discover any past history of cleidocranial dysplasia in his family.<BR>We performed mutational analysis for RUNX2 to determine if there was a m utation in RUNX2 in this patient. A missense mutation was detected in the coding region of the RUNX2. Arginine 225 (R 225) which was located at the C-terminal end of the runt domain was mutated and a replacement by tryptophan (R225W) was identified in the patient. This mutation, which results in premature termination in the runt domain, may produce a cleidocranial dysplasia phenotype by abolishing transactivation of the mutant protein.<BR>We studied the clinical evaluations of phenotypes of previous cases with R225W mutation in RUNX2. We could not, however, find any significant correlation of genotype and phenotype.

収録刊行物

参考文献 (24)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ