Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

“…It was consistent with the recent reports that the loss-of-function SLCO2A1 mutations were responsible for most PHO cases in China ( 4 , 31 , 33 , 36 , 37 ). Moreover, the recessiveness was also reported in a variety of Europe, Latin America, North Africa and East-Asia populations ( 34 , 38 , 39 , 40 , 41 , 42 , 43 ). PHO patients with SLCO2A1 mutations did not show failure of postnatal ductus arteriosus closure but developed a late-onset phenotype that was most prominent after puberty, suggesting a different pathogenic mechanism from HPGD mutations.…”

“…Many of the single gene inheritance diseases could trace to a solo or few defined mutations; however, PHO-associated SLCO2A1 variants consisted of a relatively broad spectrum of mutations. More than 50 different SLCO2A1 mutations have been identified in patients with PHO ( 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ), which are located in different exons or at splicing sites, led to changes to different functional domains or truncation of the protein. Within the six SLCO2A1 mutations identified in the current study, four of them caused premature stop of translation, which included one nonsense mutation, one frameshift mutation and two splice-site mutations.…”

Complete form of pachydermoperiostosis with good initial response to etoricoxib: A case report

“…12 Also, PGE2 causes prolonged vasodilation which may explain the digital clubbing. 19,20 Novel SLCO2A1 mutations have been described in a Lebanese family, 21 a Korean family, 19 and a Chinese family, 22 as having a novel nonsense mutation p.E141* of the SLCO2A1 gene in a Japanese one 23 and a novel homozygous truncating mutation in HPGD gene has been described in Turkey. 24 The diagnostic criteria for PDP are, Major criteria: Pachyderma, periostosis, finger clubbing, and Minor criteria: Hyperhidrosis, arthralgia, gastric ulcer, cutis verticis gyrata, blepharoptosis, joint effusion, column-like legs, edema, flushing, seborrhea.…”

“… 12 Also, PGE2 causes prolonged vasodilation which may explain the digital clubbing. 19 , 20 Novel SLCO2A1 mutations have been described in a Lebanese family, 21 a Korean family, 19 and a Chinese family, 22 as having a novel nonsense mutation p.E141* of the SLCO2A1 gene in a Japanese one 23 and a novel homozygous truncating mutation in HPGD gene has been described in Turkey. 24 …”

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

“…Deposition of collagen fibers in soft tissue, interstitial edema, dilated small blood vessels, vascular wall hyperplasia and perivascular lymphocyte infiltration are the pathological findings of digital clubbing (62). Skin biopsy from the thickened forehead showed dermal edema, marked infiltration of mast cells in the dermis, mucin deposition, elastic fibrosis, sebaceous hypertrophy and hyperplasia (16,63,64). For joints, minimal synovial cell proliferation but prominent arterial-wall thickening, with intravascular deposition of electron-dense material, were found.…”