title: Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.
abstract: All the reported Japanese patients with group A xeroderma pigmentosum (XP) have two or three mutations at codon 116 in exon 3, codon 228 in exon 6, and the splicing acceptor site of intron 3 of XP group A complementing (XPAC) gene. A homozygote (XP39OS) with a nonsense mutation at codon 228 has less severe neurological abnormalities than patients with the splicing mutation at the acceptor site of intron 3. As homozygotes for the nonsense mutation at codon 116, which truncates a carboxyl-terminal site of XPAC protein at an early part of its zinc-finger domain, have not been reported previously, the possible severity of associated neurological abnormalities was not known. We report a group A XP patient, XP18OS, who had neurological abnormalities which were more severe than those in patients homozygous for the splicing mutation. The polymerase chain reaction product from exon 3 of the patient's XPAC gene was digested completely into three fragments by MseI restriction endonuclease. Thus, the patient was homozygous for the mutation at codon 116.
authors.affiliation: Department of Dermatology, Osaka University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Maeda
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: H
authors.initials: H
authors.lastname: Minami
authors.forename: H
authors.initials: H
authors.lastname: Taguchi
authors.forename: K
authors.initials: K
authors.lastname: Yoshikawa
mesh_terms: D001483:Base Sequence; D002470:Cell Survival; D003062:Codon; D005260:Female; D005347:Fibroblasts / Q000528:radiation effects; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics*
chemical_list: D003062:Codon