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
change
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
27)
2734G->AT Deletion of G 14a frameshift Macek MJr, Mackova A, Cutting
at 2734 with GR (Sept 28)
insertion of
AT
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
3551
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)
17b
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
(example)
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 cfdata@sickkids.on.ca.
Enjoy your holiday season and
Best Wishes for the New Year.