Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease characterized by hyperphotosensitivity, DNA repair defects and a predisposition to skin cancers. XP is classified into seven genetic complementation groups (A through G type) which have a defect in the nucleotide exchange repair and a variant type that is proficient in excision repair. Some are associated with neurological metabolic problems, others with trichothiodystrophy [...]