CF Genetic Analysis Consortium NEWSLETTER #61- March 30, 1994                         

1. Summary of CF mutations:

Name           Nucleotide      Exon       Consequence           Reference                         
               change                                                                             
3906insG       insertion of    20         frameshift            Feldman D, Magnier C, Chauve C,   
               G after 3906                                     Aymard P, Hermelin B, Fauroux B   
                                                                (Nov 26, late arrival by mail)    
P140S          C->T at 550     4          Pro->Ser at 140       Férec C, Quere I, Verlingue C,    
                                                                Audrezet M-P, Rauenes O,          
                                                                Merceir B (Jan 3)                 
H139R          A->G at 548     4          His->Arg at 139       Novelli G, Sangiullo F,           
                                                                Dallapicola B, Férec C, Quere     
                                                                I, Audrezet M-P, Merceir B (Jan   
                                                                3)                                
4326delTC      deletion of     23         frameshift            Zielenski J, Markiewicz D, Tsui   
               TC from 4326                                     L-C (Jan 11)                      
1774delCT      deletion of     11         frameshift            Michel-Calemard L, Omar FB,       
               CT from 1774                                     Morel Y (Jan 13)                  
2184insG       insertion of    13         frameshift            Leoni GB, Rosatelli MC, Cao A     
               G after 2184                                     (Jan 13); Bienvenu T, Cazeneuve   
                                                                C, Kaplan JC, Beldjord C (Jan     
                                                                31)                               
1612delTT      deletion of     10         frameshift            Feldman D, Magnier C, Chauve C,   
               TT from 1612                                     Aymard P, Hermelin B, Fauroux B   
                                                                (Jan 14)                          
3132delTG      deletion of     17a        frameshift            Marigo C, Bombieri C, Pignatti    
               TG from 3132                                     PF, Bonizzato A, Nicolis E,       
                                                                Cabrini G (Jan 21)                
4279insA       insertion of    23         frameshift            Wallace A, Tassabehji M (Jan 21)  
               A after 4279                                                                       
2790-2A->G     A->G at 2790-2  intron     splicing mutation     Marigo C, Bombieri C, Pignatti    
                               14b                              PF, Gasparini P, Bisceglia L,     
                                                                Zelante L (Jan 22)                
K1177R         A->G at 3662    19         Lys->Arg at 1177      Baralle FE, Serra C, Kobal D      
                                                                (Jan 31)                          
306insA        insertion of    3          frameshift            Férec C, Quere I, Verlingue C,    
               A at 308                                         Raguenes O, Audrezet MP,          
                                                                Mercier B (Jan 31)                
2141insA       insertion of    13         frameshift            Bienvenu T, Cazeneuve C, Kaplan   
               A after 2141                                     JC, Beldjord C (Jan 31)           
1524+6insC     insertion of    intron 9   splicing              Bienvenu T, Cazeneuve C, Kaplan   
               C after                    mutation?             JC, Beldjord C (Jan 31)           
               1524+6, with                                                                       
               G->A at                                                                            
               1524+12                                                                            
[[Delta]]E115  3 bp deletion   4          deletion of Glu       Chillón M, Casals T, Nunes V,     
               of 475-477                 at 115                Giménez J, Ramos D, Estivill X    
                                                                (Feb 7)                           
L927P          T->C at 2912    15         Leu->Pro at 927       Hermans C, Halley D, van den      
                                                                Ouweland A (Feb 10)               
R117L          G->T at 482     4          Arg->Leu at 117       Novelli G, Sangiullo F,           
                                                                Dallapicola B, Férec C, Quere     
                                                                I, Audrezet MP, Verlingue C,      
                                                                Merceir B (Feb 14)                
C276X          C->A at 960     6b         Cys->Stop at 276      Novelli et al (Feb 14)            
G544S          G->A at 1762    11         Gly->Ser at 544       Férec C, Quere I, Verlingue C,    
                                                                Raguenes O, Audrezet MP,          
                                                                Merceir B (Feb 18)                
3131del15      deletion of     17a        deletion of Val       Wallace A, Tassabehji M (Feb 18)  
               15 bp from                 at 1001 to Ile                                          
               3131 or 3132               at 1005                                                 
S108F          C->T at 455     4          Ser->Phe at 108       Seydewitz HH, Witt I, Müller H,   
                                                                comm. by Meitinger T (Feb 22)     
2176insC       insertion of    13         frameshift            Savov A, Angelicheva D,           
               C after 2176                                     Jordanova A, Kalaydjieva L (Feb   
                                                                25)                               
K1060T         A->C at 3311    17b        Lys->Thr at 1060      Casals T, Chillón M, Nunes V,     
                                                                Giménez J, Ramos MD, Estivill X   
711+3A->C      A->C at 711+3   intron 5   splice mutation       Macek MJr, Mackova A, Sedriks     
                                                                SE, Cutting GR (Mar 15)           
S1455X         C->G at 4496    24         Ser->Stop at 1455     Macek MJr, Mackova A, Sedriks     
                                                                SE, Cutting GR (Mar 21)           
M1I            G->A at 135     1          No initiation         Axton RA, Brock DJH (Mar 30)      
                                          codon                                                   

2. DNA sequence polymorphisms/variations in the coding region

Nucleotide position   Amino acid change          Exon    Reference                  
2238C/G               No change (Leu at 702)     13      Bienvenu T, Cazeneuve C,   
                                                         Kaplan JC, Beldjord C      

3. DNA sequence polymorphism elsewhere in the CF gene

Description           Location                                Reference                  
1716+13G/T            G or T at 1716+13 (intron 10)           Chillón M, Nunes V,        
                                                              Casals T, Esivill X (Jan   
                                                              18)                        
3271+18C/T            C or T at 3271+18 (intron 17a)          Claustres M (Jan 24)       
-895T/G               T or G at -895 upstream of the cap      Bienvenu T, Cazeneuve C,   
                      site                                    Kaplan JC, Beldjord C      
                                                              (Feb 11)                   
-329A/G               A or G at -329 upstream of the cap      Wallace A, Tassabehji M    
                      site                                    (Feb 18)                   

4. Wallace A and Tassabehji M (Jan 21) noted the association of 4279insA with 297-3C->T (reported by Bienvenu et al, NL#55).

5. Casats T, Palacio A, Nunes V and Estivill X raised the possibility that V232D (reported by Costes B et al, Nov 19, NL#60) was a sequence polymorphism (see letter Jan 19).

6. A.J. M. Hill has developed screening test for Q2X and is interested in looking at any patients of Northern Irish descent for the mutation (see letter Jan 28).

7. The consortium report on the population variation of common CF mutations has be provisionally accepted for publication in Human Mutation, with some suggested minor modifications of the text and presentation format. To finish the report, however, I need to seek updates for several mutations. The investigators have been contacted.

8. If you use e-mail regularly, please send me a note. My address is cfdata@sickkids.on.ca

Best wishes,

Lap-Chee Tsui