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.
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Boda
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Uchida
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
authors.forename: Nobue
authors.initials: N
authors.lastname: Takaiso
authors.affiliation: Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Ouchi
authors.affiliation: Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Fujita
authors.affiliation: Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
authors.forename: Asami
authors.initials: A
authors.lastname: Kuno
authors.affiliation: Faculty of Medical Technology, School of Health Science, Fujita Health University, Toyoake, Japan.
authors.forename: Tadayoshi
authors.initials: T
authors.lastname: Hata
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Arisa
authors.initials: A
authors.lastname: Nagatani
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Funamoto
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Miyata
authors.affiliation: Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Yoshikawa
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.|Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.|Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
authors.forename: Hidehito
authors.initials: H
authors.lastname: Inagaki
mesh_terms: D019943:Amino Acid Substitution; D059327:Brachydactyly / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D054684:Cyclic Nucleotide Phosphodiesterases, Type 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D006973:Hypertension / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
chemical_list: D054684:Cyclic Nucleotide Phosphodiesterases, Type 3; C517287:PDE3A protein, human