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PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
- Source :
-
Hypertension research : official journal of the Japanese Society of Hypertension [Hypertens Res] 2018 Nov; Vol. 41 (11), pp. 981-988. Date of Electronic Publication: 2018 Sep 12. - Publication Year :
- 2018
-
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.
Details
- Language :
- English
- ISSN :
- 1348-4214
- Volume :
- 41
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Hypertension research : official journal of the Japanese Society of Hypertension
- Publication Type :
- Academic Journal
- Accession number :
- 30209282
- Full Text :
- https://doi.org/10.1038/s41440-018-0094-5