A PDE3A mutation in familial hypertension and brachydactyly syndrome

Hiroko Boda, Hidetoshi Uchida, Nobue Takaiso, Yuya Ouchi, Naoko Fujita, Asami Kuno, Tadayoshi Hata, Arisa Nagatani, Yuri Funamoto, Masafumi Miyata, Tetsushi Yoshikawa, Hiroki Kurahashi, Hidehito Inagaki

研究成果: Article

17 引用 (Scopus)

抜粋

Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple HTNB patients. This mutation was found to be completely linked to the family members who inherited this condition. The mutation, resulting in p.Ser446Pro, was located within the cluster region of reported mutations. This mutation may also affect the phosphodiesterase activity of PDE3A to reduce the cyclic AMP level in the cell and thereby influencing the development of limbs and the function of the cardiovascular system.

元の言語English
ページ(範囲)701-703
ページ数3
ジャーナルJournal of Human Genetics
61
発行部数8
DOI
出版物ステータスPublished - 01-08-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Boda, H., Uchida, H., Takaiso, N., Ouchi, Y., Fujita, N., Kuno, A., Hata, T., Nagatani, A., Funamoto, Y., Miyata, M., Yoshikawa, T., Kurahashi, H., & Inagaki, H. (2016). A PDE3A mutation in familial hypertension and brachydactyly syndrome. Journal of Human Genetics, 61(8), 701-703. https://doi.org/10.1038/jhg.2016.32