title: A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A.
abstract: Most Japanese patients with xeroderma pigmentosum group A (XPA) have the homozygous intron 3 splicing mutations (AlwNI mutation). Here, we report a Japanese XPA patient, XP79KO, a compound heterozygote with a newly identified T to G transversion at splice donor site in intron 1 in one allele, and with the AlwNI mutation in another allele in the XPA gene. The mutation in intron 1 creates two new abnormal splice sites that resulted in two types of aberrant mRNA. These abnormal splicings cause frameshifts that make stop codons downstream. No XPA protein was detected in XP79KO fibroblasts.
authors.affiliation: Department of Dermatology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuou-ku, Kobe, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Tanioka
authors.forename: Arief
authors.initials: A
authors.lastname: Budiyant
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Tohru
authors.initials: T
authors.lastname: Nagano
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Ichihashi
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Miyachi
authors.forename: Chikako
authors.initials: C
authors.lastname: Nishigori
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007564:Japan; D008297:Male; D017354:Point Mutation; D012326:RNA Splicing; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein
chemical_list: D004268:DNA-Binding Proteins; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein