| Literature DB >> 27053290 |
Hiroko Boda1, Hidetoshi Uchida1, Nobue Takaiso2, Yuya Ouchi3, Naoko Fujita3, Asami Kuno3, Tadayoshi Hata4, Arisa Nagatani1, Yuri Funamoto1, Masafumi Miyata1, Tetsushi Yoshikawa1, Hiroki Kurahashi2,3, Hidehito Inagaki2,3.
Abstract
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.Entities:
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Year: 2016 PMID： 27053290 DOI： 10.1038/jhg.2016.32
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172