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A PDE3A mutation in familial hypertension and brachydactyly syndrome.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

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

doi

10.1038/jhg.2016.32

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

701-3

issue

8

eissn

1434-5161

issn

1435-232X

pii

jhg201632

journal_volume

61

pub_type

杂志文章

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