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査読

26 被引用数 (Scopus)


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.

ジャーナルJournal of Human Genetics
出版ステータスPublished - 01-08-2016

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)


「A PDE3A mutation in familial hypertension and brachydactyly syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。