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