NEWSLETTER OF THE HUGO MUTATION DATABASE INITIATIVE SPONSORED BY THE MARCH OF DIMES (U.S.A) No.8 March 1999

INSIDE THIS ISSUE:

MDI ACHIEVEMENTS

-Nomenclature accepted by genetics journals

CORRESPONDENCE

-BIODEF/BIOMDB major update

ANNOUNCING NEW DATABASES

CALENDAR OF EVENTS

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MDI ACHIEVEMENTS

-Nomenclature accepted by genetics journals

Calls were made to genetics journals to adopt the Antonarakis et al nomenclature recommendations (http://journals.wiley.com/humanmutation/nomenclature.htm) as developed by S. Antonarakis and the Nomenclature Working Group of the MDI. So far we have had a positive response from Elsevier journals publishing "Mutation Research" and the "Trends" journals, The American Journal of Human Genetics and most recently from "Nature Genetics" who have also decided to adopt these recommendations. The Leeds Castle Polyposis Group has also adopted this nomenclature.

CORRESPONDENCE

BIODEF/BIOMDB Update

Dear Colleagues,

The BIODEF database of tetrahydrobiopterin (BH4) deficiencies and the BIOMDB mutations database are newly updated.

BIODEF

There are now 383 patients with different forms of BH4 deficiency registered in the database. A major update of DHPR-deficient patients is now included. An extended query search including up to three different clinical signs and symptoms is now possible.

BIOMDB

There are now 115 different mutations tabulated. The information is accessible from the BH4 Home Page (www.unizh.ch/~blau/bh4.html).

PD Dr. Nenad Blau
Division of Clinical Chem. & Biochem.
Univ. Children's Hospital, Zurich, Switzerland
Fax: +411 266 7169, E-mail: blau@kispi.unizh.ch

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ANNOUNCING NEW DATABASES

The following databases have recently been released. These are dbs developed through MDI encouragement. Great work by all those involved.

1. Antithrombin Mutation Database.
ATIII 107300.
http://www.med.ic.ac.uk/dd/ddhc/default.htm
Curators: Trevor Bayston and David Lane, Dept. of Haematology, Imperial College School of Medicine, Charing Cross Hospital Campus, Hammersmith, London, UK.

2. European CMT consortium, Mutations Update.
PMP22 *601097, MPZ *159440, Cx32 *304040.
http://cmt-www.uia.ac.be/cmt/Mutation.htm
Curator: C. Van Broeckhoven, Lab. of Neurogenetics, Univ. of Antwerp, Dept. of Biochem., Antwerpen, Belgium

3. VMD2 Mutation Database
VMD2 *153700.
http://www.uni-wuerzburg.de/humangenetics/vmd2.html
Bernhard H.F. Weber, Andreas Marquardt, Institute of Human Genetics, Univ. of Wuerzburg, Germany.

CALENDAR OF EVENTS

Hugo Mutation Database Initiative
6th International Meeting
Brisbane, Australia 1999

This meeting will be held in conjunction with the Human Genome Meeting (HGM 99) organised by HUGO. It will be held the day before HGM begins (i.e. the registration/mixer day). All interested parties to advise Rania as soon as possible.

PROGRAM: This meeting aims to be more of a discussion meeting rather than the usual presentation type of meeting, there will however be formal presentations in the morning. If you have any issues relevant to mutation databases that you are particularly interested in and would like brought up at the meeting, we would be pleased to hear from you. The final program will be mailed out soon.

NOTICE OF REGISTRATION: All those intending to attend the meeting are to contact R. Horaitis, (horaitis@ariel.ucs.unimelb.edu.au, Fax: 61-3-9288-2988) if they have not already done so, for organisational reasons such as program book etc. Those who have not pre-registered cannot be guaranteed a booklet.

WEBSITE: http://ariel.ucs.unimelb.edu.au:80/~cotton/mdi.htm

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HUGO Mutation Detection '99

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Hugo Mutation Database Initiative 7th International Meeting San Francisco, U.S.A 1999

This meeting will be held in conjunction with the American Society of Human Genetics (ASHG). It is usually held the day before ASHG begins (i.e. the registration/mixer day), a fee is charged to cover costs. Please mark this in your calendar (i.e. probably 19th October, 1999). More details will be sent as they become available around mid-year.

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