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

Hypertens Res. 2018 Nov;41(11):981-988. doi: 10.1038/s41440-018-0094-5. Epub 2018 Sep 12.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brachydactyly / diagnosis*
  • Brachydactyly / genetics
  • Cyclic Nucleotide Phosphodiesterases, Type 3 / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Hypertension / congenital*
  • Hypertension / diagnosis
  • Hypertension / genetics
  • Infant, Newborn
  • Mutation
  • Neonatal Screening
  • Pedigree
  • Phenotype


  • Cyclic Nucleotide Phosphodiesterases, Type 3
  • PDE3A protein, human

Supplementary concepts

  • Brachydactyly with hypertension