PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)

Kirsten Y. Renkema, Jonne M. Westermann, Rutger A.J. Nievelstein, Shirley M. Lo-A-Njoe, Bert van der Zwaag, Meindert E. Manshande, Mieke M. van Haelst

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)981-988
JournalHYPERTENSION RESEARCH
Volume41
Issue number11
DOIs
Publication statusAccepted/In press - 1 Jan 2018

Cite this

Renkema, K. Y., Westermann, J. M., Nievelstein, R. A. J., Lo-A-Njoe, S. M., van der Zwaag, B., Manshande, M. E., & van Haelst, M. M. (Accepted/In press). PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome). HYPERTENSION RESEARCH, 41(11), 981-988. https://doi.org/10.1038/s41440-018-0094-5