Journal
HYPERTENSION RESEARCH
Volume 41, Issue 11, Pages 981-988Publisher
SPRINGERNATURE
DOI: 10.1038/s41440-018-0094-5
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Funding
- European Community's Seventh Framework Programme (FP7/2009) [305608]
- EURenOmics
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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 antihypertensive 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.
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