CF Genetic Analysis Consortium NEWSLETTER #62- June 14, 1994                          

1. Summary of CF mutations:

Name           Nucleotide      Exon       Consequence           Reference                         
1249-5A->G     A->G at 1249    intron 7   splicing              Bienvenu T, Cazeneuve C, Kaplan   
                                          mutation?             JC, Beldjord C (April 3)          
E193K          G->A at 709     5          Glu->Lys at 193       Ferrari M, Pappalardo E,          
                                          (PS)                  Cremonesi L (April 8); Novelli    
                                                                G, Sangiullo F, Dallapicola B,    
                                                                Férec C, Quere I, Verlingue C,    
                                                                Merceir B (May 9)                 
W19C           G->T at 189     2          Trp->Cys at 19        Macek MJr, Mackova A, Sedriks     
                                          (PS)                  SE, Cutting GR (April 14)         
D192N          G->A at 706     5          Asp->Asn at 192       Costes B, Ghanem N, Girodon E,    
                                                                Goossens M (April 18)             
Q237E          C->G at 841     6a         Gln->Glu at 237       Costes B et al. (April 18)        
3419delT       deletion of T   17b        frameshift            Balassopoulou A, Fotaki V         
               at 3419                                          (April 20)                        
I506T          T->C at 1649    10         Ile->Thr at 506       Claustres M, Desgeorges M,        
                                                                Romey M-C (April 20)              
Q98R           A->G at 425     4          Gln->Arg at 98        Claustres M, Romey M-C,           
                                                                Desgeorges M (April 21)           
P111L          C->T at 464     4          Pro->Leu at 111       Claustres et al. (April 21)       
R170C          C->T at 640     5          Arg->Cys at 170       Férec C, Quere I, Verlingue C,    
                                                                Rauenes O, Audrezet M-P,          
                                                                Merceir B (April 22)              
E193X          G->T at 709     5          Glu->Stop at 193      Férec et al. (April 22)           
1898+1G->T     G->T at 1898+1  intron 12  splice mutation       Morris CP (May 12)                
I980K          T->A at 3071    16         Ile->Lys at 980       Bienvenu T, Cazeneuve C, Kaplan   
                                          (CBAVD)               JC, Beldjord C (May 19)           
L633P          T->C at 2030    13         Leu->Pro at 633       Haworth A, Malone G, Schwarz M    
                                                                (May 23)                          
Y1092X(C->G)   C->G at 3408    17b        Tyr->Stop at 1092     Shoshani T, Kerem B (May 24)      
4173delC       deletion of C   22         framshift             Zielenski J, Markiewicz D, Tsui   
               at 4173                                          L-C (May 26)                      
I618T          T->C at 1985    13         Ile->Thr at 618       Macek MJr, Mackova A, Sedriks     
                                                                SE, Egan ME, Cutting GR (June 1)  
K166Q          A->G at 628     5          Lys->Gln at 166       Macek et al. (June 1)             
R785X          C->T at 2485    13         Arg->Stop at 785      Wallace A, Tassabehji M (June     

2. DNA sequence polymorphisms/variations in the coding region

Nucleotide position   Amino acid change          Exon    Reference                  
1104C/G               No change (Pro at 324)     7       Petreska L, Koceva S,      
                                                         Efremov GD (April 18)      
3333C/T               No change (Ala at 1067)    17b     Jezequel P, Dorval I, Le   
                                                         Gall JY (May 16)           

3. DNA sequence polymorphism elsewhere in the CF gene

Description           Location                                Reference                  
2752-15C/G            C or G at 2752-15 (intron 14b)          Dörk T, Schmidt K,         
                                                              Tümmler B (April 7)        
1341+18C/A            C or A at 1341+18 (intron 8)            Claustres M (April 22)     
1249-82C/T            C or T at 1249-82 (intron 7)            Zielenski J, Markiewicz    
                                                              D, Tsui L-C (May 26)       

4. Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C (April 3) and Cao A, Rosatelli MC and Leoni GB (May 5) retract their report on 2184insG.

5. Hughes D, Hill A, Graham C (April 20) report the presence of an additional T in intron 18 at position 3601-99.

6. Claustres M (April 22) now reports that the A to C change at 1341+18 in intron 8 is a sequence polymorphism.

7. Estivill E (April 12) corrects the name of their previously reported mutation 1811+1.6kbA->G after more detailed analysis of the region around exon 11 and 12.

8. Malone G and Schwarz M are requesting data for a genotype-phenptype correlation study on E60X. Please see letter and data contribution form (April 4).

9. The CF Genotype-Phenotype Consortium is requesting data for a study on mutations associated with pancreatic sufficiency. Anyone with appropriate data is welcome to contribute. Please see letter and data contribution form from Ada Hamosh.

10. The consortium report on the population variation of common CF mutations has been formally accepted for publication in Human Mutation later this year. Citation should be: The Cystic Fibrosis Analysis Consortium (1994). Population variation of common CF mutations. Human Mutation 4: (in press).

11. I have been working on the idea of establishing an electronic version of the CF mutation database accessible by internet. I will report on the progress of this project. If you use e-mail regularly, please send me a note. My address is <>.

Best wishes,

Lap-Chee Tsui