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

Research output: Contribution to journalArticle

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)701-703
Number of pages3
JournalJournal of Human Genetics
Volume61
Issue number8
DOIs
Publication statusPublished - 01-08-2016

Fingerprint

Brachydactyly
Hypertension
Mutation
Phosphoric Diester Hydrolases
Missense Mutation
Cardiovascular System
Cyclic AMP
Genes
Exons
Extremities

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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. / A PDE3A mutation in familial hypertension and brachydactyly syndrome. In: Journal of Human Genetics. 2016 ; Vol. 61, No. 8. pp. 701-703.
@article{034c38f0468b48a292a85fc894341d16,
title = "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.",
author = "Hiroko Boda and Hidetoshi Uchida and Nobue Takaiso and Yuya Ouchi and Naoko Fujita and Asami Kuno and Tadayoshi Hata and Arisa Nagatani and Yuri Funamoto and Masafumi Miyata and Tetsushi Yoshikawa and Hiroki Kurahashi and Hidehito Inagaki",
year = "2016",
month = "8",
day = "1",
doi = "10.1038/jhg.2016.32",
language = "English",
volume = "61",
pages = "701--703",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "8",

}

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, vol. 61, no. 8, pp. 701-703. https://doi.org/10.1038/jhg.2016.32

A PDE3A mutation in familial hypertension and brachydactyly syndrome. / 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.

In: Journal of Human Genetics, Vol. 61, No. 8, 01.08.2016, p. 701-703.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A PDE3A mutation in familial hypertension and brachydactyly syndrome

AU - Boda, Hiroko

AU - Uchida, Hidetoshi

AU - Takaiso, Nobue

AU - Ouchi, Yuya

AU - Fujita, Naoko

AU - Kuno, Asami

AU - Hata, Tadayoshi

AU - Nagatani, Arisa

AU - Funamoto, Yuri

AU - Miyata, Masafumi

AU - Yoshikawa, Tetsushi

AU - Kurahashi, Hiroki

AU - Inagaki, Hidehito

PY - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84983637753&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84983637753&partnerID=8YFLogxK

U2 - 10.1038/jhg.2016.32

DO - 10.1038/jhg.2016.32

M3 - Article

C2 - 27053290

AN - SCOPUS:84983637753

VL - 61

SP - 701

EP - 703

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 8

ER -