Nijmegen Breakage Syndrome (NBS) Italian website

UPDATES



18th May 2007

The following pages have been updated according to recent publications:
- Disease Description (see also Clinical Phenotype and Molecular Biology)
- Diagnosis
- Patient Care and Treatment

13th April 2006

The following pages have been updated according to the recent paper by Seemanova et al. (2006):
- Disease Description (Clinical Phenotype, Cytogenetics and Cellular Phenotype, Molecular Biology);
- Diagnosis
The Authors describe two twin brothers affected with a severe form of NBS with neurological abnormalities but without chromosomal instability, who are compound heterozygous for the NBS1 mutations 643C>T (R215W) and 657del5.

NBS1 gene mutations in cancer (Molecular Biology - Disease Description) has also been updated.

24th January 2005

Clinical phenotype (Disease Description) has been updated and focuses on recent report of the third case of association between perineal region rhabdomyosarcoma and NBS, and on report of aplastic anemia in a girl with a homozygous I171V mutation of the NBS1 gene.
Molecular biology (Disease Description) and Patient Care and Treatment have been updated according to the papers by Gennery et al. (2004) and New et al. (2005) who describe 3 families of Pakistani origin with a novel NBS1 gene mutation, and a phenotype overlapping both NBS and Fanconi anemia. New et al. (2005) also describe the first instance of the use of Bone Marrow Transplantation for NBS.

3rd January 2005

Molecular Biology (Disease Description) has been updated. A new page has been created in this section dealing with: NBS1 gene mutations in cancer.

11th September 2003

The 6th Annual Meeting of the Italian Society of Human Genetics will be held from 24th to 27th of September in Verona, Italy.
Three communications will deal with Nijmegen Breakage Syndrome. For more details please visit the Message Board (This Month).

12th June 2003

In the Families page we tell the story of Stefano F., we invite you to read it (see also the Message Board (This month)). Please note that the story is in Italian.

A scientific paper has been added to the Message Board (This month).

28th May 2003

Clinical phenotype has been updated according to a paper by Distel et al. See the Message Board (This month) for details.

A brochure which describes criteria for NBS diagnosis, intended for paediatricians and general practitioners, has been made available, as a downloadable *.pdf file, in the Diagnosis page (English version).

A subscribe form has been added to the website. Just send us the requested information if you want to be notified by e-mail of future updating.

Two more scientific papers have been added to the Message Board (This month).