title: Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.
abstract: The severity of neurological abnormalities in Japanese group A xeroderma pigmentosum (XP-A) patients correlates with the sites of non-sense mutation in the XP-A gene. We describe a patient who presented with a more severe photosensitivity and neurological abnormality than those in typical Japanese XP-A patients with a splicing mutation in intron 3. The patient was compound heterozygous for the splicing mutation in intron 3, which resulted in formation of a non-sense codon in exon 4, and a novel non-sense mutation at codon 208 in exon 5, a C to T transition creating a stop codon TAG. Although the combination of these mutations might have been thought to cause only mild neurological signs, the longer truncated XP-A proteins than those of typical XP-A patients may have resulted in severe neurological symptoms. This phenomenon may be explained by a translocation of chromosome (1;10)(q25.3;q22.3) inherited from his father.
authors.affiliation: Department of Dermatology, Osaka University School of Medicine, Osaka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Maeda
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Minami
authors.forename: H
authors.initials: H
authors.lastname: Taguchi
authors.forename: T
authors.initials: T
authors.lastname: Mimaki
authors.forename: K
authors.initials: K
authors.lastname: Yoshikawa
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007621:Karyotyping; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics; D010787:Photosensitivity Disorders / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics*; D014178:Translocation, Genetic; D014983:Xeroderma Pigmentosum / Q000235:genetics*