CF Genetic Analysis Consortium NEWSLETTER #64- Dec. 15, 1994                          

We just hit the 500 mark!

1. Summary of CF mutations:

Name           Nucleotide      Exon       Consequence           Reference                         
2767del8       deletion of     14b        frameshift            Ferec C, Quere I, Audrezet M-P,   
               GTT GTG CT                                       Verlingue C, Mercier B (Sept 19)  
               from 2767                                                                          
Y1182X         C->G at 3678    19         Tyr->Stop at 1182     Wallace A, Tassabehji M (Sept     
2734G->AT      Deletion of G   14a        frameshift            Macek MJr, Mackova A, Cutting     
               at 2734 with                                     GR (Sept 28)                      
               insertion of                                                                       
L320F          A->T at 1092    7          Leu->Phe at 320       Macek MJr, Mackova A, ME Egan,    
                                                                Cutting GR (Oct 3)                
460delG        deletion of G   4          frameshift            Wagner K, Rosenkranz W (Oct 10)   
               at 460                                                                             
T1246I         C->T at 3869    20         Thr->Ile at 1246      Ferec C, Verlingue C, Quere I,    
                                          (mutation?)           Raguenes O, Audrezet M-P,         
                                                                Mercier B (Oct 10); Malone G,     
                                                                Haworth A, Schwarz M (Nov 18)     
605insT        insertion of    4          frameshift            Mackova A, Macek MJr, Cutting     
               T after 605                                      GR (Oct 18)                       
621G->A        G->A at 621     4          splice mutation       Mackova A, et al. (Oct 18)        
1002-3T->G     T->G at 1002-3  intron 6b  splice mutation       Mackova A, et al. (Oct 18)        
1119delA       deletion of A   7          frameshift            Mackova A, et al. (Oct 18)        
               at 1119                                                                            
D1154G         A->G at 3593    18         Asp->Gly at 1154      Costes B, Girodon E, Ghanem N,    
                                          (CBAVD)               Goossens M (Oct 24)               
296+1G->C      G->C at 296+1   intron 2   splice mutation       Tzetis M, Andoniadi T,            
                                                                Kanavakis M, Synodinos-Traeger    
                                                                J, Casals T (Oct 31)              
R117P          G->C at 482     4          Arg->Pro at 117       Feldman D, Magnier C, Chauve C,   
                                                                Sardet A (Nov 4)                  
E692X          G->T at 2206    13         Glu->Stop at 692      Casals T, Giménez J, Ramos MD,    
                                                                Nunes V, Estivill X (Nov 7)       
A46D           C->A at 269     2          Ala->Asp at 46        Andoniadi T, Tzetis M,            
                                                                Synodinos-Traeger J, Kanavakis    
                                                                M (Nov 9)                         
E664X          G->T at 2122    13         Glu->Stop at 664      Ferec C, Quere I, Verlingue C,    
                                                                Raguenes O, Audrezet M-P,         
                                                                Mercier B (Nov 15)                
2113delA       deletion of A   13         frameshift            Ferec C, et al. (Nov 15)          
               at 2113                                                                            
E1321Q         G->C at 4093    21         Glu->Gln at 1321      Ferec C, et al. (Nov 15)          
[[Delta]]M114  deletion of     18         deletion of Met       Ferec C, et al. (Nov 15)          
0              ATG from 3550              at 1140                                                 
               or TGA from                                                                        
2566insT       insertion of    13         frameshift            Bienvenu T, Tcherkoff L, Kaplan   
               T after 2566                                     JC, Beldjord C (Nov 17)           
3499+2T->C     T->C at 3499+2  intron     splice mutation       Creegan R, Edkins E (Nov 21)      
A309D          C->A at 1058    7          Ala->Asp at 309       Ferrari M, Seia M, Russo S,       
                                                                Corbetta C (Nov 22)               
1782delA       deletion of A   11         frameshift            Ferrari M, et al. (Nov 22)        
               at 1782                                                                            
N418S          A->G at 1385    9          Asn->Ser at 418       Sava A, Angelicheva D,            
                                                                Jordanova A (Nov 22)              
M244K          T->A at 863     6a         Met->Lys at 244       Claustres M, Desgeorges M,        
                                                                Romey M-C (Dec 7)                 
V1190P         T->A at 3701    19         Val->Pro at 1190      Glavac D, Ravnik-Glavac M, Dean   
                                                                M (Dec 7)                         
591del18       deletion of     4          deletion of 6         Varon R, Reis A (Dec 12)          
               18 bp from 591             a.a. from                                               

2. DNA sequence polymorphism elsewhere in the CF gene

Description           Location                                Reference                  
297-67A/C             A or C at 297-67 (intron 2)             Haworth A, Malone G,       
                                                              Schwarz M (Nov 18)         

3. B Costes noted an error in the report of D443Y. The nucleotide change at 1459 should be G->T (instead of G->A).

4. Consortium meeting in Montreal: A short meeting was held on Wednesday, October 19, at the annual ASHG meeting. The synopsis is as follows:

(a) Continuation of the Consortium-

The Consortium has evolved to become a repository for CFTR mutations and forum for information exchange. Members continue to receive listings of new and compiled mutation tables at regular intervals in the form of newsletters (every 2 months). Population data are collected only when there is a need. Groups or laboratories working on CFTR mutation identification can join as members, but regional centers are encouraged to form to reduce burden of newsletter mailing.

(b) Format of reports and newsletter-

Report of mutations should try to follow a standard format as much as possible (see below). As work is being done to convert the database from its current word-processing file to a more "professional" form, members are also encouraged to submit data using e-mail. From 1995, effort will be attempted to squeeze two reports on one page.

(c) Steering committee-

The members of the steering committee (Art Beaudet, Francis Collins, Michel Goossens, and Bob Williamson) will remain the same, although its role will be more advisory than decision making (membership acceptance).

(d) Electronic database-

Human Mutation (or more precisely, Dick Cotton and John Wiley, the publisher) is interested in using CF as a test to make mutation data publicly accessible by internet or web. There is general agreement that this move is welcome. Members do not have reservation in releasing "unpublished" data this way.

* It should be noted that single mutation reports are no longer accepted as full-length research articles or even short communications by most journals.

5. Please use the following format for sending in new entries to the mutation table:

Name of        Nucleotide      Exon    Consequence         Institute       Names of      
mutation       change                                                      Contributors  
591del18       deletion of     4       deletion of 6       Freie           Varon R,      
               18 bp from 591          a.a. from           Universität     Reis A (Dec   
                                                           Berlin          12)           
Additional comments:  The mutation was detected by heteroduplex and shorter PCR                      
products, and confirmed by direct sequencing.  The deletion removes sites for AluI,                  
CviII and MltI, but creates site for MnlI.  The mutation was found in a pair of 13                   
years old male twins of Turkish origin, out of 218 non-[[Delta]]F508 alleles                         
tested.  The patients have persistent nasal polyps and elevated sweat tests, but no                  
pancreas or lung involvement.  Their second CF allele is E831X. Corresponding                        
investigator: Dr. med. A. Reis; Address: Institut für Humangenetik, Genetische                       
Beratungsstelle Berlin, Heubnerweg 6, D-14059 Berlin.  Telephone:    FAX:    E-Mail:                 

Similar formats should be used for the polymorphism tables.

6. Please use e-mail for communication as much as possible. My address is

Enjoy your holiday season and

Best Wishes for the New Year.