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The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer

✍ Scribed by Véronique Vidal; Jacques-Olivier Bay; Françoise Champomier; Maria Grancho; Laurence Beauville; Cécile Glowaczower; Didier Lemery; Marc Ferrara; Yves-Jean Bignon

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
30 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

The Werner's syndrome ( WS) is a rare recessive disease characterized by an early onset of geriatric disorders. The Werner's syndrome gene ( WRN), recently cloned, encodes for an helicase and therefore plays a role in DNA metabolism and DNA repair. Here, we report the study of a French family with two affected members and numerous cancers. Using the protein truncation test and sequencing, we identified a homozygous mutation in the WRN gene. This mutation generates a frame shift leading to a very short 391 amino acids truncated protein without the helicase motif. A particularly severe phenotype of the affected patient was associated with an unusual vulvar cancer traditionaly observed in elderly patients and therefore likely to be related to the Werner's syndrome.

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