A 10‐year follow‐up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole‐genome sequencing

Abstract

Most patients with xeroderma pigmentosum complementation group D (XP‐D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in XP‐D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan.