Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma

Abstract

This study sought to analyse tyrosinase (TYR) pathogenic variants in a Chinese Mongolian family with progressive symmetric erythrokeratoderma (PSEK). We collected clinical data and peripheral blood DNA samples from the initial patient and his family members for polymerase chain reaction (PCR) amplification and whole-exome sequencing of the coding region of TYR. Genetic analysis showed a TYR insertion (c. 929_930insC; p.Arg311Lysfs*7) in the patient that was not detected in any of the normal family members or in 100 healthy controls. This report provides the first description of this TYR pathogenic variant (c. 929_930insC) in a family; functional studies and further research are needed for an in-depth analysis.