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

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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.

Keywords: chromosomal instability; neurological abnormalities; polymerase chain reaction; restriction fragment length polymorphism

Document Type: Research Article

DOI: https://doi.org/10.1046/j.1365-2133.2000.03611.x

Affiliations: 1: Department of Dermatology, 2: Department of Dermatology, Nagoya City University Medical School, 1 Kawasumi, Mizuhocho, Mizuho-ku, Nagoya 467-8601, Japan 3: Central Laboratory for Research and Education and 4: Department of Paediatrics, Osaka University School of Medicine, Osaka, Japan

Publication date: 2000-07-01

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