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Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

European journal of medical genetics - 1 Feb 2023

Bloch Adrien, Couture Guillaume, Isidor Bertrand, Ricquebourg Manon, Bourrat Emmanuelle, Lipsker Dan, Taillan Bruno, Combier Alice, Chiaverini Christine, Moufle Frédérique, Delobel Bruno, Richette Pascal, Collet Corinne

Abstract excerpt

Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and pachydermia. SLCO2A1 and HPGD genes are both responsible for PHO. The pathology is classically defined as an autosomal recessive disorder with clinical variability ranging from a mild to more severe phenotype. However, the hypothesis for an autosomal...

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PMID: 36549465
DOI: 10.1016/j.ejmg.2022.104689

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