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Review
. 2021 May;141(5):1148-1156.
doi: 10.1016/j.jid.2020.10.013. Epub 2020 Dec 17.

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder

Hongbin Luo  1 , Masoomeh Faghankhani  2 , Yi Cao  3 , Jouni Uitto  4 , Qiaoli Li  5
Affiliations
Review

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder

Hongbin Luo et al. J Invest Dermatol. 2021 May.

Abstract

In the past two decades, there has been great progress in identifying the molecular basis and pathomechanistic details in pseudoxanthoma elasticum (PXE), a heritable multisystem ectopic mineralization disorder. Although the identification of pathogenic variants in ABCC6 has been critical for understanding the disease process, genetic modifiers have been disclosed that explain the phenotypic heterogeneity of PXE. Adding to the genetic complexity of PXE are PXE-like phenotypes caused by pathogenic variants in other ectopic mineralization-associated genes. This review summarizes the current knowledge of the genetics and candidate modifier genes in PXE, a multifactorial disease at the genome-environment interface.

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Conflict of interest statement

CONFLICT OF INTEREST

The authors declare no conflicts of interest.

References

    1. Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. Int J Dermatol 2014;53:692–8. - PMC - PubMed
    1. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012;44:338–42. - PubMed
    1. Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, et al. MYORG is associated with recessive primary familial brain calcification. Ann Clin Transl Neurol 2019;6:106–13. - PMC - PubMed
    1. Atanasova VS, Jiang Q, Prisco M, Gruber C, Pinon Hofbauer J, Chen M, et al. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2017;137:1842–9. - PMC - PubMed
    1. Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, et al. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet 2009;84:80–4. - PMC - PubMed

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