A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

摘要

a Photograph of the patient at 14 years of age, which was permitted to be presented in any journal by her parents. The patient had no abnormalities, including skin abnormalities. b The variants in ERCC2 identified in the patient by targeted sequencing. Sanger sequencing demonstrated inheritance from parents. c The ERCC2 structure and loci of variants of our patient (indicated by asterisk) and reported case (indicated by plus)5. DEXDc DEAD-like helicase superfamily, HELICc helicase superfamily c-terminal domain.