Homozygous and compound heterozygous mutations at the Werner syndrome locus

• Autor(a) principal: Oshima, J.
• Data de Publicação: 1996
• Outros Autores: Yu, C. E., Piussan, C., Klein, G., Jabkowski, J., Balci, S., Miki, T., Nakura, J., Ogihara, T., Ells, J., Smith, Marilia de Arruda Cardoso [UNIFESP], Melaragno, Maria Isabel [UNIFESP], |Fraccaro, M., Scappaticci, S., Matthews, J., Ouais, S., Jarzebowicz, A., Schellenberg, G. D., Martin, G. M.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1093/hmg/5.12.1909; http://repositorio.unifesp.br/handle/11600/25641

The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder, the Werner syndrome gene (WRN) has recently been identified as a member of the helicase family, Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees, the latter mutation was originally described as a 4 bp deletion spanning a spliced junction, It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon, Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described, These include three compound heterozygotes (one Japanese and two Caucasian), the new mutations are located all across the coding region.