____________________________________________________________

NEWSLETTER #44, April 16, 1992

_____________________________________________________________

1. Mutation report:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
541delC        frameshift          deletion of C at 541   4         Ferrari M, Goossens M,       
                                                                    Fanen P, Cremonesi L,        
                                                                    Belloni E (March 9)          
G27X           Gly->Stop at 27     G->T at 211            2         Shackleton S, Harris A       
                                                                    (April 4)                    
300delA        frameshift          deletion of A at 300   3         Malone G, Schwarz M, Super   
                                                                    M (April 6)                  
A120T          Ala->Thr at 120     G->A at 409            4         Chillón M, Nunes V, Casals   
                                                                    T, Estivill X (April 6)      
W401X          Trp->Stop at 401    G->A at 1335           8         Cuppens H, Marynen P,        
                                                                    Cassiman JJ (April 7)        
G970R          Gly->Arg at 970     G->C at 3040           15        Cuppens H, Marynen P,        
                                                                    Cassiman JJ (April 7)        
D614G          Asp->Gly at 614     A->G at 1973           13        Novelli G, Dallapiccola B,   
                                                                    Mercier B, Audrezet MP,      
                                                                    Ferec C (April 10)           
D648V          Asp->Val at 648     A->T at 2075           13        Ferec C, Quere I, Mercier    
                                                                    B, Audrezet MP, Guillermit   
                                                                    H, Verlingue C (April 10)    
3601-17T->C    splice mutation?    T->C at 3601-17        intron    Ferec C, Quere I, Mercier    
                                                          18        B, Audrezet MP, Guillermit   
                                                                    H, Verlingue C (April 10)    
R1066L         Arg->Leu at 1066    G->T at 3329           17b       Ferec C, Quere I, Mercier    
                                                                    B, Audrezet MP, Guillermit   
                                                                    H, Verlingue C (April 10)    
2721del11      frameshift          11 bp deletion from    14a       Cuppens H, Marynen P,        
                                   2721                             Cassiman JJ (April 13)       
L719X          Leu->Stop at 719    T->A at 2288           13        Dörk T, Kälin N, Tümmler B   
                                                                    (April 13)                   
Q1291R         Gln->Arg at 1291    A->G at 4004           20        Dörk T, Kälin N, Tümmler B   
                                                                    (April 13)                   
681delC        frameshift          deletion of C at 681   5         Zielenski J, Xia YH, Tsui    
                                                                    L-C (April 15)               
3667del4       frameshift          4 bp deletion from     19        Chillón M, Nunes V, Casals   
                                   3667                             T, Estivill X (April 16)     

2. VERY IMPORTANT, CHANGE OF FAX NUMBER: There is a major renovation of the telephone system at the Hospital for Sick Children in Toronto. My telephone number has been changed to (1)416-813-6015. The facsimile machine number is (1)416-813-4931 but the old number will be effective to the end of April. Please take note.

Best regards,

Lap-Chee Tsui