NEWSLETTER OF THE HUGO MUTATION DATABASE INITIATIVE
SPONSORED BY THE MARCH OF DIMES (U.S.A)
No.7 JANUARY 1999

INSIDE THIS ISSUE:

WORKING GROUPS-ANY PROGRESS?
ANNOUNCING NEW DATABASES
CALENDAR OF EVENTS

- HUGO MDI Meeting, Brisbane March '99
- Mutation Detection Meeting, Vicoforte, Italy, May '99
- HUGO MDI Meeting, San Francisco October '99

WORKING GROUPS-ANY PROGRESS?

After the Denver meeting, the working groups were to go about various tasks. Has there been any progress? Please advise Rania if so.

ANNOUNCING NEW DATABASES

The following databases have recently been released. These are dbs developed through MDI encouragement and may be linked to from the listing on the web. Great work by all those involved.

1. Mutations in the alpha-N-acetylgalactosaminidase Gene Causing Schindler Disease. GALB 104170.
http://www.mssm.edu/crc/mutations/schindler.html
Curators: Kenneth H. Astrin, Robert J. Desnick, Dept. of Human Genetics, Mount Sinai School of Medicine, New York, U.S.A.

2. Carbohydrate Deficient Glycoprotein syndrome, types I1 & Ib. PMM2 601785 & PMI 154550.
http://www.med.kuleuven/cme/cdg.htm
Curators: Gert Matthijs, Center for Human Genetics, Leuven, Belgium.

3. Long QT syndrome database. KvLQT1, HERG, SCN5A, LQT4, KCNE1.
http://www.ssi.dk/en/forskning/lqtsdb/lqtsdb.htm
Curators: Michael christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology Group, Statens Serum Institut, Copenhagen , Denmark.

4. Familial Hypertrophic Cardiomyopathy mutation database. (FHC), MYBPC3 600958, MYH7 160760, MYL2 160781, TNNT2 191045, TNN13 191044, TPM1 191010.
http://www.angis.org.au/Databases/Heart/heartbreak.html
Curators: David CY Fung, Bing Yu & ronald J. Trent, Dept. of Molecular and clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia.

5. Database of WS-associated WRN mutations.
http://www.pathology.washington.edu/werner/ws_wrn.htm
Curators: Mike Moser and Raymon J. Monnat Jr. Univ. of Washington, Dept. of Pathology Seattle, WA, U.S.A.

6. Blood Group Antigen Mutation Database. (mutation database of gene loci encoding common and rare blood group antigens).
http://www.bioc.aecom.yu.edu/bgmut/index.htm
Curator: Olga O. Blumenfeld and including Marion Reid and Cheng-Han Huang. New York Blood Center, New York, NY, U.S.A.

If I have left any new releases out please let me know.

CORRESPONDENCE

-none this issue.

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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.

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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), but the date has not been finalised yet. Please mark this in your calendar (i.e. probably 19th October, 1999). More details will be sent as they become available.

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