TY - JOUR
T1 - PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)
AU - Renkema, Kirsten Y.
AU - Westermann, Jonne M.
AU - Nievelstein, Rutger A.J.
AU - Lo-A-Njoe, Shirley M.
AU - van der Zwaag, Bert
AU - Manshande, Meindert E.
AU - van Haelst, Mieke M.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85053378516&partnerID=8YFLogxK
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85053378516&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30209282
U2 - https://doi.org/10.1038/s41440-018-0094-5
DO - https://doi.org/10.1038/s41440-018-0094-5
M3 - Article
C2 - 30209282
SN - 0916-9636
VL - 41
SP - 981
EP - 988
JO - Hypertension research
JF - Hypertension research
IS - 11
ER -