Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation

✍ Scribed by T. Maeda; K. Sato; T. Tanaka; H. Minami; H. Taguchi; T. Mimaki; K. Yoshikawa

• Book ID: 104459519
• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 360 KB
• Volume: 143
• Category: Article
• ISSN: 0007-0963
• DOI: 10.1046/j.1365-2133.2000.03611.x

✦ Synopsis

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.