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- Title
Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.
- Authors
Maeda, T.; Sato, K.; Tanaka, T.; Minami, H.; Taguchi, H.; Mimaki, T.; Yoshikawa, K.
- 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.
- Subjects
XERODERMA pigmentosum; NONSENSE mutation; PHOTOSENSITIVITY disorders; NERVOUS system abnormalities
- Publication
British Journal of Dermatology, 2000, Vol 143, Issue 1, p174
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1046/j.1365-2133.2000.03611.x