A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
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- 作者：N. Shimozawa ; Yasuyuki Suzuki ; Zhongyi Zhang ; Kiyokuni Miura ; Akiko Matsumoto ; Masahiro Nagaya ; Silvia Castillo-Taucher and Naomi Kondo
- 关键词：Key words Rhizomelic chondrodysplasia punctata ; PEX7 ; Peroxisome targeting signal 2
- 刊名：Journal of Human Genetics
- 出版年：1999
- 出版时间：March 1999
- 年：1999
- 卷：44
- 期：2
- 页码：123-125
- 全文大小：93 KB
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Molecular Medicine
Cancer Research
Cell Biology
Immunology
Neurosciences - 出版者：Springer Japan
- ISSN：1435-232X
文摘
Mutations in the PEX7 gene encoding a peroxisome targeting signal 2 (PTS2) were identified in two patients with rhizomelic chondrodysplasia punctata (RCDP). A 7-year-old girl, the first Japanese individual to be diagnosed biochemically as a case of RCDP, had a novel nonsense mutation, R232ter, in the PEX7 gene, which had been inherited from her consanguineous parents. Another patient, a Chilean boy with RCDP, had compound heterozygous mutations of PEX7, L292ter and A218V, both of which have been documented. R232ter, which deletes all of the last two WP40 repeats in the PEX7 gene, is sufficient to inactivate functions of the PEX7 gene.