Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA ) in South Korea

groups, most patients with XP-A, B, D, F and G have neurological complications, whereas those in groups C, E and V are free from neurodegeneration [5,6]. The XPA (MIM 278700) patients have most severe progressive neurological degeneration [6,7]. The XPA gene (MIM 611153) is located on chromosome 9q22.3 and a mutation that is homozygous for the G-C transversion mutation at the splice site of intron 3 (IV3: –1 G to C) occurs most frequently. More than 90% of the mutant alleles in Japanese XPA patients have the same G to C base change mutation at this Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea