Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis

Abstract

This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.

A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis

“…The lesions of our patients are consistent with this characteristic. It has been confirmed that the mevalonate pathway is involved in the pathogenesis of porokeratosis …”

“…Since Zhang et al first identified 14 mutations in MVK (mevalonate kinase) in familial and sporadic DSAP in 2012, MVK mutations have been reported in several cohorts of Chinese patients with DSAP and become the major cause of DSAP. [2][3][4][5] Besides MVK, mutations in MVD (mevalonate decarboxylase) and FDPSgenes in the mevalonate pathwayhave been found to cause DSAP and nonactinic disseminated superficial porokeratosis (DSP). 5,6 To date, only five mutations (c.À1129_141+994del, c.283-1776_649-143del, c.338G>A, c.486+1G>A and c.773+1G>A) in FDPS have been documented in patients with DSAP or DSP.…”

“…[2][3][4][5] Besides MVK, mutations in MVD (mevalonate decarboxylase) and FDPSgenes in the mevalonate pathwayhave been found to cause DSAP and nonactinic disseminated superficial porokeratosis (DSP). 5,6 To date, only five mutations (c.À1129_141+994del, c.283-1776_649-143del, c.338G>A, c.486+1G>A and c.773+1G>A) in FDPS have been documented in patients with DSAP or DSP. 5,6 The lesions harbouring mutations in FDPS tended to be homogeneous and superificial.…”

“…5,6 To date, only five mutations (c.À1129_141+994del, c.283-1776_649-143del, c.338G>A, c.486+1G>A and c.773+1G>A) in FDPS have been documented in patients with DSAP or DSP. 5,6 The lesions harbouring mutations in FDPS tended to be homogeneous and superificial. 5 The lesions of our patients are consistent with this characteristic.…”

Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis

“…[2] Gene mutations in mevalonate pathway enzymes, such as mevalonate kinase ( MVK ), phosphomevalonate kinase ( PMVK ), mevalonate decarboxylase ( MVD ), and farnesyl diphosphate synthase ( FDPS ), may be involved in the pathogenesis of PK. [34] In the present study, five sporadic patients with PK were recruited. Dermoscopic features were investigated, and genetic testing was conducted.…”