Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature

Dias, João; Rosa, Rita; Perpétuo, I.P.; Rodrigues, Ana Maria; Janeiro, André; Costa, Maria Manuela; Gaião, Luís; Silva, José António Pereira da; Miltenberger-Miltényi, Gábriel

doi:10.1016/j.semarthrit.2013.07.015

Cited by 20 publications

(5 citation statements)

References 8 publications

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“…With the exception of the three major phenotypes of clubbing, periostosis and pachydermia, additional symptoms, including sebaceous hyperplasia, hyperhidrosis, blepharoptosis and arthropathy have also been reported (13,14). It has also been reported that, compared with the clinical spectrum of patients affected with HPGD mutations, the clinical manifestations in patients with SLCO2A1 mutations emerge later, beginning with clubbing of the distal phalanges during puberty and pachydermia shortly following puberty.…”

Section: Discussionmentioning

confidence: 99%

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

Guo

Yang

Liu

et al. 2017

Molecular Medicine Reports

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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 carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated. In the present study, a 20-year-old Chinese patient with PHO was investigated using sequence analysis of PHO genes and bioinformatics analysis. A novel, compound heterozygous mutation in the SLCO2A1 gene was identified, which contained two novel mutations: c.349delC (p.L117SfsX56) in exon 3 and c.1286A>G (p.Y429C) in exon 9. These two novel genotypes in PHO are the first, to the best of our knowledge, to be reported in PHO. This finding expands the mutation spectrum of PHO, which contributes to improving genetic diagnosis and future genetic counseling, and provides clues to the phenotype-genotype associations.

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Section: Discussionmentioning

confidence: 99%

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

Guo

Yang

Liu

et al. 2017

Molecular Medicine Reports

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“…Physiological and pathophysiological roles played by the three discussed chloride channels in various cellular processes suggest that their dysfunctions would result in human diseases. Indeed, a number of human disease-associated mutations in genes encoding LRRC8A (see Review: Vaeth and Feske, 2018 ) and SLCO2A1 (see Reviews: Madruga Dias et al, 2014 ; Stumpff, 2018 ; Nakanishi et al, 2021 ) as well as by association of cancer progression with TMEM206 expression ( Zhao J. et al, 2019 ; Zhang et al, 2020 ) have been reported. Global knockout of Lrrc8a in mice exhibits increased prenatal/postnatal mortality as well as a wide variety of disordered development of tissues and organs ( Kumar et al, 2014 ).…”

Section: Perspectivementioning

confidence: 99%

Properties, Structures, and Physiological Roles of Three Types of Anion Channels Molecularly Identified in the 2010’s

et al. 2021

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Molecular identification was, at last, successfully accomplished for three types of anion channels that are all implicated in cell volume regulation/dysregulation. LRRC8A plus LRRC8C/D/E, SLCO2A1, and TMEM206 were shown to be the core or pore-forming molecules of the volume-sensitive outwardly rectifying anion channel (VSOR) also called the volume-regulated anion channel (VRAC), the large-conductance maxi-anion channel (Maxi-Cl), and the acid-sensitive outwardly rectifying anion channel (ASOR) also called the proton-activated anion channel (PAC) in 2014, 2017, and 2019, respectively. More recently in 2020 and 2021, we have identified the S100A10-annexin A2 complex and TRPM7 as the regulatory proteins for Maxi-Cl and VSOR/VRAC, respectively. In this review article, we summarize their biophysical and structural properties as well as their physiological roles by comparing with each other on the basis of their molecular insights. We also point out unsolved important issues to be elucidated soon in the future.

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“…Fulfilment of the diagnostic criteria requires at least two of the following: hypertrophic skin changes, clubbing, bone pain, radiographical changes and family history 3. The most common genes associated with the disease are Hydroxyprostaglandin Dehydrogenase (HPGD) and SLCO2A 4. Important differentials include secondary hypertrophic osteoarthropathy, acromegaly, thyroid acropachy and chronic inflammatory rheumatic diseases.…”

Section: Descriptionmentioning

confidence: 99%

Touraine-Solente-Gole syndrome

Mittal

Gupta

2019

BMJ Case Rep

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Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature

Cited by 20 publications

References 8 publications

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

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

Properties, Structures, and Physiological Roles of Three Types of Anion Channels Molecularly Identified in the 2010’s

Touraine-Solente-Gole syndrome

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