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     
Q1071P         Gln->Pro at 1071    A->C at 3344           17b       N. Ghanem, B. Costes, J.     
                                                                    Martin, M. Goossens (Aug     
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     
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.

Best regards,