Amos, Boston U, USA Horst, Münster, West Germany

Anvret, Stockholm, Sweden Jaume-Roig, Son Dureta, Spain

Barker, U Alabama Birm, USA Kalaydjieva, Sofia, Bulgaria

Barton, Cambridge, England Kant, U Penn, USA

Beaudet, Baylor, USA Kitzis, CHU-Paris, France

Baranov, Leningrad, USSR Klinger, Integ Genet, USA

Boué, Paris, France Knight, London, England

Cao, U Cagliari, Italy Krueger, Hahnemann, USA

Carbonara, Torino, Italy Lavinha, Lisboa Codex, Portugal

Cassiman, U Leuven, Belgium Lissens, Vrije U Brussels, Belgium

Claustres, Montpellier, France Loukopoulos, Athens, Greece

Cochaux, Brussels, Belgium Lucotte, College de France

Collins, U Michigan, USA Malcolm, ICH-London, England

Coskun, Hacettepe U, Turkey Malik, Basler-Basel, Switzerland

Coutelle, East Berlin Mao, Collab Res, USA

Cutting, Johns Hopkins, USA McIntosh, WGH-Edinburgh, Scotland

Dallapiccola, Roma, Italy Morel, Lyon, France
De Arce, Dublin, Ireland Morgan, McGill, Canada

de la Chapelle, Helsinki, Finland Nukiwa, Tokyo, Japan

Dean, NCI Frederick, USA Olek, U Bonn, West Germany

Desnick, Mount Sinai, New York, USA Orr, U Minnesota, USA

Edkins, Perth, Australia Pignatti, U Verona, Italy

Edwards, Oxford, England Ramsay, SAMIR, South Africa

Efremov, Skopje, Yugoslavia Richards, GeneScreen, USA

Elles, St Mary's-Manchester, England Romeo, Gaslini-Genoa, Italy

Erlich, Cetus, USA Rowley, Rochester, USA

Estivill, Barcelona, Spain Rozen, Montreal Children, Canada

Ferec, Brest, France Scheffer,UGroningen,The Netherlands

Ferrari, Milano, Italy Schmidtke, IHG, Berlin

Gerard, Harvard, USA Schwartz, U Copenhagen, Denmark

Gilbert, Cornell, New York, USA Sebastio, Naples, Italy

Godet, Villeurbanna, France Seltzer, U Colorado, USA

Goossens, Creteil, France Spona, Vienna, Austria

Graham, Belfast, N Ireland Super, Royal Manchester, England

Halley, Rotterdam, The Netherlands Thibodeau, Rochester, USA

Harris, Guy's-London, England Tümmler, Hannova, West Germany

Higgins, Birmingham, England Verellen-Dumoulin,Bruxelles,Belgium

Highsmith, NC Mem Hosp, USA Willems, U Antwerp, Belgium

Williamson,St Mary'sLondon,England




NEWSLETTER #24, August 20, 1990


1. Chris Higgins has agreed to provide each member a copy of his 3D CFTR model with the known mutations marked. If anyone wishes to use the pictures in seminar presentations, one should give credit to Chris and his colleagues as well as the consortium. To obtain a copy of the picture(s), please send your name with a mailing label to:

Prof. Chris Higgins

Microbial Genetics Laboratory

Imperial Cancer Research Fund

University of Oxford

John Radcliffe Hospital

Headington, Oxford OX3 9DU


2. It looks like summer vacation is over. We have 6 reports on mutations and sequence variations in this issue:

a. Nunes and Estivill- 372+12C->T in intron 6b;

b. Morral, Nunes and Estivill- variation of the GATT repeat in front of exon 6b;

c. Gasparini, Saoia, Bonizzato, Dognini and Pignatti- A1773T in exon 11;

d. Cutting and Curristin- 3662delA in exon 19;

e. Dean, White, Baranov and Ivaschenko- 1677delTA in exon 10; and

f. Jones, McIntosh and Brock- V520F in exon 10.

The original letters are included.

3. PF Pignatti notes that the silent mutation they reported in the last issue of Newsetter had an error in its description: (1) the amino acid number should be 1463 (not 1462) and (2) the amino acid should be Glutamine (not Glycine).

4. In the last Newsletter, I requested for information about papers on reporting the newly identified mutations, published, in press, or, submitted for publication. I have received only one return so far. Please send in your contribution as soon as possible so that we will have a list that can be used as a convenient reference.

5. Attached is a letter from Francis Collins requesting permission to publish a figure about the mutations in a review article; please let me know if you have any objection before September 1. I think this is an universal decision because, if permission is given to one, everyone in the consortium will be allowed to do the same. A perhaps related matter is that I have ocassionally used a summary slide similar to what Francis described. I did so because I felt that it would clearly indicate the complexity of the different CF mutations but yet I would not violate the consortium agreement because I did not reveal the nature of the mutations. An updated copy of the schematic diagram is attached. You are welcome to use it in your talks (and reviews if everyone agrees to what Francis has proposed). I have intentionally not included an explanation for the symbols, as it is obvious to the members but unimportant for the general audience.

6. I understand that some members have trouble receiving the Newsletter by FAX. Most often, the failure was due to bad connection. The machine in my office actually knows that and repeats the transmission 4 times until it calls quit. We have about 5-10% failure rate and we usually try again the next day. Still, there are few we never manage to contact. In view of this, we will try to have the back issues (#14-#25) available to all members by the time of the International CF Congress in October. So, if you notice any mistakes in the previous issues, please drop me a note. If you want a copy of the compiled issues #1-#13, please also let me know.

7. A general meeting of the Consortium will be held at the next International CF Congress which will be held between October 3 and 6, 1990, in Arlington, Virginia, USA. The time of the meeting is tentatively scheduled for the evening of October 4; the exact time and location will be announced on a later date. The registration deadline for the Congress is September 5. Please call the US CF Foundation if you have any questions regarding registration to the Congress: (301) 951-4422; FAX number. (301) 951-6378.

Best regards,

Lap-Chee Tsui

Standardized population screening report to the consortium

From (Name of principal investigator): ___________________________

Patient population (Location / ethnic origin):

# CF chrom. # CF chrom.

Name Total w/ mut'n Name Total w/ mut'n

1. [[Delta]]F508 ______ ______ 31. Y913C ______ ______

2. [[Delta]]I507 ______ ______ 32. R553Q ______ ______

3. 2566insAT ______ ______ 33. S549R(A->C)______ ______

4. F508C (var?)______ ______ 34. P574H ______ ______

5. I506V (var) ______ ______ 35. 1154insTC ______ ______

6. G551D ______ ______ 36. 1214delT ______ ______

7. S549N ______ ______ 37. 3659delC ______ ______

8. R553X ______ ______ 38. 556delA ______ ______

9. A559T ______ ______ 39. 621+1G->T ______ ______

10. G542X ______ ______ 40. E1371X ______ ______

11. S549R(T->G)______ ______ 41. G85E ______ ______

12. R560T ______ ______ 42. R851X ______ ______

13. A455E ______ ______ 43. 711+1G->T ______ ______

14. Q493X ______ ______ 44. G179R ______ ______

15. R117H ______ ______ 45. 2909delT ______ ______

16. D110H ______ ______ 46. 2522insC ______ ______

17. R347P ______ ______ 47. R1162X ______ ______

18. S1255X ______ ______ 48. Q1291H ______ ______

19. W1282X ______ ______ 49. Q39X ______ ______

20. W1316X ______ ______ 50. G1244E ______ ______

21. 444delA ______ ______ 51. Y1092X ______ ______

22. 3821delT ______ ______ ______ ______

23. R334W ______ ______ ______ ______

24. S549I ______ ______ ______ ______

25. G458V ______ ______ ______ ______

26. G1349D ______ ______ ______ ______

27. W846X ______ ______ ______ ______

28. 1717-1G->A______ ______ ______ ______

29. N1303K ______ ______ ______ ______

30. Y563N ______ ______ ______ ______