PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
Hypertens Res
; 41(11): 981-988, 2018 Nov.
Article
em En
| MEDLINE
| ID: mdl-30209282
ABSTRACT
Autosomal-dominant hypertension and brachydactyly syndrome (HTNB; Bilginturan syndrome) is known to cause stroke before age 50 when untreated. We report a novel PDE3A gene mutation in a mother and daughter affected with dominant brachydactyly of the hands and feet, a short stature, and hypertension. The hypertension was medically responsive to anti-hypertensive treatment. The 3-bp deletion in the PDE3A gene presented de novo in the mother. Here, we expand the list of PDE3A mutations identified in Bilginturan syndrome and emphasize the importance of standardized genetic testing of HTNB patients to improve diagnostics at an early age. We recommend extended phenotyping in patients with brachydactyly, a short stature or hypertension in clinical practice.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Nucleotídeo Cíclico Fosfodiesterase do Tipo 3
/
Braquidactilia
/
Hipertensão
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Adult
/
Female
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Humans
/
Newborn
Idioma:
En
Revista:
Hypertens Res
Assunto da revista:
ANGIOLOGIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Holanda