High-dose cyclophosphamide in the treatment of severe aplastic anemia in children

✍ Scribed by José Carlos Jaime-Pérez; Oscar González-Llano; David Gómez-Almaguer

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 208 KB
• Volume: 66
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/1096-8652(200101)66:1<71::aid-ajh1019>3.0.co;2-d

✦ Synopsis

FL 33612 to permit rapid consideration for publication.

Mutations in the Factor XI Gene

To the Editor: Mutations in the factor XI gene are responsible for a variable bleeding phenotype which correlates poorly with levels of circulating FXI product. We read with interest and concern an article published recently describing a novel nonsense mutation [1]. The authors state in their discussion that "eighteen causative mutations of the congenital FXI deficiency have been reported: three nonsense mutations, ten missense mutations, and five splicing site abnormalities. Three nonsense mutations are located in exons 5 and 7, which truncate the proteins in the middle of the second and third apple domains, respectively".

To our knowledge, prior to the publication of their paper, only two nonsense mutations had been described for the FXI gene, both in exon 5 [2,3]. No nonsense mutation has been described in exon 7. Also, only three splicing site abnormalities have been described, not five [2,4] (Table I). Additionally, an important omission was the 14-bp type IV deletion described in Askenazi Jews [5].