Journal of human genetics · 2016
A PDE3A mutation in familial hypertension and brachydactyly syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Boda Hiroko, Uchida Hidetoshi, Takaiso Nobue, Ouchi Yuya, Fujita Naoko, Kuno Asami, Hata Tadayoshi, Nagatani Arisa, Funamoto Yuri, Miyata Masafumi, Yoshikawa Tetsushi, Kurahashi Hiroki, Inagaki Hidehito
Аннотация
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.