Genomic coordinate (human 12:20,368,322 PDE3A).
Cytoband (human 12p12.2 PDE3A).
Intraband %= 47.4 PDE3A
Polymorphs = 273 PDE3A
OMIM’ genes @ 12p12.2 = 22 genes.
Hyperbolic Umbilic Chromosome = 1,200 genes.
Here I 🎁 present: “Hypertension and Brachydactyly Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PDE3A)
Hypertension and Brachydactyly Syndrome (HTNB), also known as Bilginturan syndrome, is an autosomal dominant genetic disorder. It is characterized by severe high blood pressure and type-E brachydactyly (shortening of the fingers and toes). Without treatment, patients are at high risk of fatal strokes before age 50.
Core Features.
Hypertension: Blood pressure is severe, age-dependent, and salt-independent. Onset often occurs in childhood or adolescence, occasionally leading to hypertensive emergencies if undiagnosed.
Brachydactyly: Type-E brachydactyly presents as abnormally shortened metacarpals and phalanges.
Physical Traits: Patients often present with short stature, low birth weight, and a stocky build.
Vascular Anomalies: The high blood pressure is believed to be heavily influenced by neurovascular contacts in the brainstem and structural abnormalities in the renal and vertebral arteries.
Genetic Cause.
The syndrome is caused by a gain-of-function mutation in the PDE3A gene, which regulates cyclic AMP (cAMP) and cyclic GMP (cGMP) in vascular smooth muscle cells. This mutation alters normal blood vessel function, causing increased vascular resistance.
