NEWSLETTER #41, January 17, 1992

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1. The mutations reported in this issue are from:

- N. Kälin, Thilo Dörk and B. Tümmler (Dec. 10)

= W. Lissens, M. Bonuelle, I. Liebaers, I. Quere, M.P. Audrezet,

B. Mercier and C. Ferec (Jan. 15) *see note below

S1251N G->A at 3884 exon 20

- H. Cuppens, , O. Loumi, P. Marynen and J.J. Cassiman (Dec. 11)

= M. Chillón, A. Palacio, V. Nunes and X. Estivill (Dec. 15) *

1609delCA CA deletion at 1609, 1610 exon 10

- M. Goossens, B. Costes, P. Fanen and N. Ghanem (Dec. 13)

Q890X C->T at 2800 exon 15

W1204X G->A 3743 exon 19

- M.P. Audrezet, H. Guillermit, B. Mercier, I. Quere, C. Verlingue and

C. Ferec (Dec. 31)

C866Y G->A at 2729 (seq. variation?) exon 14a

- N. Kälin, T. Dörk and B. Tümmler (Jan. 2)

2143delT T deletion at 2143 or 2144 exon 13

2184insA A insertion after 2184 exon 13

- W. Lissens, M. Bonuelle, I. Liebaers, M.P. Audrezet, B. Mercier and

C. Ferec (Jan. 3)

3272-1G->A splice site mutation intron 17a

F1052V T->G at 3286 (seq. variation?) exon 17b

- G. Novelli, Dallapicolla, M.P. Audrezet, B. Mercier and C. Ferec

(Jan. 3)

R1070Q G->A at 3341 exon 17b

- M.P. Audrezet, H. Guillermit, B. Mercier, I. Quere, C. Verlingue and

C. Ferec (Jan. 7)

3358delAC AC deletion at 3358, 3359 exon 17b

- M. Ferrari, M. Goossens, P. Fanen, L. Cremonesi and E. Belloni

(Jan. 8)

R352Q GA at 1187 exon 7

- I. Dorval, M. Blayau, B. Chauvel, B. Lemarec, V. David and J.Y. Le Gall

(membership in application) (Jan. 14)

F1286S T->C at 3989 exon 20

2. The sequence variations reported in this issue are from:

- N. Kälin, T. Dörk and B. Tümmler (Jan. 2)

4096-283 (T or C) intron 21

3. Thanks to Ann Harris who pointed out a typegraphical error in the last Newsletter- The GT substitution at 2611 should be E827X (not G827X). Also, it should be Issue #40 (Dec. 9, 1991), not #39. My apology.

(cont'd on next page)

4. Leoni et al. noted a mistake in their previous report (Dec. 3)- The number of nucleotides deleted should be 17 (not 16); therefore, the description should be:

1706del17 17-bp del. from 1706 exon 10

5. As you might have already noticed, there are two mutations that have been reported by two independent groups in this issue of Newsletter- Kälin et al. (Dec. 10) and Lissens et al. (Jan. 15) on S1251N in exon 20; Cuppens et al. (Dec. 11) and Chillón et al. (Dec. 15) on 1609delCA in exon 10. According to our revised quidelines, they should be considered as independent reports; please reference these reports together.

6. I would like to ask members again to update the references for the mutations reported to the Consortium. Haig Kazazian (Editor for Human Mutations) is keen to publish our mutation table in the first issue of his new Journal. I think it is a good idea but the table would not be useful if there is a large number of mutations missing from the table. Since more than 50% of the mutations reported to the consortium does not appear to have a proper reference for publication, Haig also invites members to submit reports to his Journal as well. The author guideline is attached (The specific details will be sent in another mailing as the quality of the copy I have is not good enough). If everyone acts promptly, we may all be able to squeeze in the first issue which is due to publish in Spring (in the Northern hemisphere).