Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.

ABSTRACT:

Background

Xeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer. The different XP subtypes, which are caused by mutations of eight distinct genes, show some specific clinical manifestations. XP variant (XPV) is caused by mutations in the gene encoding DNA polymerase eta (POLH).

Case presentation

We report a family that included two XP patients whose parents were first cousins. The proband is a 36-year-old male who developed a large number of pigmented freckle-like lesions starting at 4 years of age; later, he displayed typical psoriasis manifestation, abnormal renal function and hyperglycaemia. He was suspected as suffering from dyschromatosis symmetrica he

SUBMITTER: Fang X 

PROVIDER: S-EPMC6543889 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature