NEWSLETTER #49, September 29, 1992
1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference 1833delT Frameshift deletion of T at 1833 12 M. Schwartz, A.L. Palle, G.V. Christensen (Aug 20) 3293delA Frameshift deletion of A at 3293 17b N. Ghanem, B. Costes, J. Martin, M. Goossens (Aug 24) Q1071P Gln->Pro at 1071 A->C at 3344 17b N. Ghanem, B. Costes, J. Martin, M. Goossens (Aug 27) R170G Arg->Gly at 170 C->G at 640 5 M. Claustres, M. Laussel, G. Razakatsara (Sep 7) S466X Ser->Stop at 466 C->G at 1529 10 T. Meitinger, C. Aulehla-Scholz, I. Böhm, T. Deufel (Sep 14) I566L Ile->Leu at 566 A->C at 1798 11 G. Ghanem, B. Costes, J. (mutation?) Martin, M. Goossens (Sep 18) D1152H Asp->His at 1152 G->C at 3586 18 W.E. Highsmith, L. Burch, K.J. Friedman, B.M. Wood, A. Spock, L.M. Silverman, M.R. Knowles (Sep 18) W846X1 (see Trp->Stop at 846 G->A at 2669 14a J. Cheadle, L. Meredith note) (Sep 28)Please note that the other mutation identified by Vidaud et al. (1990) is still W846X.
2. DNA sequence polymorphisms/variations in the coding region
3471 (T or C) No change (Ala at 1113; 17b N. Ghanem, B. Costes, J. T->C change accompanying Martin, M. Goossens (Aug Q1071P) 27) 2553 (A or G) Ile->Met at 807 13 C. Ferec, I. Quere, M.P. Audrezet, C. Verlingue, H. Guillermit, B. Mercier (Sep 14) 1184 (C or G) Thr->Ser at 351 7 W. Lissens, M. Bonduelle, I. Liebaers, C. Ferec, I. Quere, M.P. Audrezet, B. Mercier (Sep 14)
3. Correction: The putative splice mutation reported by Estivill et al. in NL#48 should be 3601-111G->C (not G->T).
4. The last general meeting for the consortium was held in Dublin during the International CF Conference on August 25, 1992. The synopsis of the meeting is as follows:
a. It is unanimously decided that the Consortium should continue to operate, primarily for the collection of new mutation information and updates of the list of mutations. Newsletter once a month is adequate.
b. The response to the request of data for the population screening table has not been overwhelming. It is also felt that we have already collected sufficient data for the common mutations. Therefore, it is decided that collection population screening data will be reduced to at most once a year.
c. There was a short discussion on the Consortium guideline regarding citation of unpublished data. Members are reminded that the original reporting group should be consulted whenever the information is used for seminars or secondary reports are submitted for publication. Information regarding the general frequency of mutations across different geographic locations can be freely quoted for comparative purpose. To avoid unnecessary misunderstanding, members are asked to consult with the source group for citation of any specific information when in doubt.
5. Attached are some summary diagrams and tables that might be useful for general presentations. It was initially suggested that these materials would be provided to members in slides ready for presentation. The cost for large scale reproduction is prohibitive. Good copies may be obtained from a review article which will appear in the November issue of Trends in Genetics.
6. There will not be any formal CF Genetic Analysis Consortium meeting at the North American CF Conference.
7. For rapid publication of CF mutations, you may now also consider Human Heredity. Manuscripts should be addressed to Dr. Leo P. ten Kate, Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, 9713 AW Groningen, The Netherlands. Tel: +31 50 63 29 25; FAX: +31 50 63 29 47.