Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic ...

A rare cause of digital clubbing: pachydermoperiostosis

A 35-year-old man of Tunisian origin complained of inflammatory arthralgia and he had noticed a progressive enlargement of his hands and feet as well as facial furrowing. On examination, he had thickening of the skin of the head and distal extremities and deep folds and furrows of the skin of the forehead (A), digital clubbing of fingers (B) and toes (C), spadelike enlargement of the hands and ...

Genetic Mutations that Cause Coronary Artery Disease

Novel mutations in GJA1 cause oculodentodigital syndrome.

Oculodentodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generalized microdontia and enamel hypoplasia. Recently, it has been shown that mu...

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy

Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrie...