TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM

Amos, Boston U, USA Kitzis, CHU-Paris, France

Barker, U Alabama Birm, USA Klinger, Integ Genet, USA

Barranger, Los Angeles, USA Knight, London, England

Barton, Cambridge, England Lavinha, Lisboa Codex, Portugal

Beaudet, Baylor, USA Lissens, Vrije U Brussels, Belgium

Boué, Paris, France Loukopoulos, Athens, Greece

Bowcock, Stanford, USA Lucotte, College de France

Cao, U Cagliari, Italy Malcolm, ICH-London, England

Carbonara, Torino, Italy Malik, Basler-Basel, Switzerland

Cassiman, U Leuven, Belgium Mao, Collab Res, USA

Claustres, Montpellier, France McIntosh, WGH-Edinburgh, Scotland

Collins, U Michigan, USA Morel, Lyon, France

Cutting, Johns Hopkins, USA Morgan, McGill, Canada

Dallapiccola, Roma, Italy Naylor, UT San Antonio, USA

De Arce, Dublin, Ireland Olek, U Bonn, West Germany

Dean, NCI Frederick, USA Orr, U Minnesota, USA

Desnick, Mount Sinai, New York, USA Pignatti, U Verona, Italy

Edwards, Oxford, England Ramsay, SAMIR, South Africa

Elles, St Mary's-Manchester, England Richards, GeneScreen, USA

Erlich, Cetus, USA Romeo, Gaslini-Genoa, Italy

Estivill, Barcelona, Spain Rowley, Rochester, USA

Ferec, Brest, France Rozen, Montreal Children, Canada

Ferrari, Milano, Italy Scheffer,UGroningen,TheNetherlands

Godet, Villeurbanna, France Schmidtke, IHG, Berlin

Goossens, Creteil, France Schwartz, U Copenhagen, Denmark

Graham, Belfast, N Ireland Sebastio, Naples, Italy

Gruenert, UCSF, USA Seltzer, U Colorado, USA

Halley, Rotterdam, The Netherlands Spona, Vienna, Austria

Harris, Guy's-London, England Super, Royal Manchester, England

Highsmith, NC Mem Hosp, USA Thibodeau, Rochester, USA

Horst, Münster, West Germany Tümmler, Hannova, West Germany

Jaume-Roig, Son Dureta, Spain Verellen-Dumoulin,Bruxelles,Belgium

Kalaydjieva, Sofia, Bulgaria Willems, U Antwerp, Belgium

Kant, U Penn, USA Williamson,St Mary'sLondon,England

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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 4

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NEWSLETTER #17, May 11, 1990

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1. Garry Cutting reports a mutation in exon 22 (E1371X); please see attached letter.

2. Thirty-three groups have responded to the last request of mutation screening results and I have started to compile the data into a database. I have experienced some difficulty in reporting the data to the consortium, however, because the table is too large to print. I am working on the problem and I think the table will be ready by the next newsletter. So far it appears that G542X, G551D, A455E and R553X are more frequent than others in the populations screened. In the mean time, please send in your data if you have not done so. Please use the form for easy data retrival.

Best regards,

Lap-Chee Tsui

Standardized population screening report to the consortium

From (Name of principal investigator): ___________________________

Patient population (Location / ethnic origin):

(use different sheets for different populations)

Number of CF chromosomes

Name Total screened with the mutation Other comments

(* indicate if only non-[[Delta]]F chromosomes are screened)

1. [[Delta]]F508 ___________ ___________ __________________

2. [[Delta]]I507 ___________ ___________ __________________

3. 2566insTT ___________ ___________ __________________

4. F508C (var?)___________ ___________ __________________

5. I506V (var) ___________ ___________ __________________

6. G551D ___________ ___________ __________________

7. S549N ___________ ___________ __________________

8. R553X ___________ ___________ __________________

9. A559T ___________ ___________ __________________

10. G542X ___________ ___________ __________________

11. S549R(T->G)___________ ___________ __________________

12. R560T ___________ ___________ __________________

13. A455E ___________ ___________ __________________

14. Q493X ___________ ___________ __________________

15. R117H ___________ ___________ __________________

16. D110H ___________ ___________ __________________

17. R347P ___________ ___________ __________________

18. S1255X ___________ ___________ __________________

19. W1282X ___________ ___________ __________________

20. W1316X ___________ ___________ __________________

21. 444delA ___________ ___________ __________________

22. 3821delT ___________ ___________ __________________

23. R334W ___________ ___________ __________________

24. S549I ___________ ___________ __________________

25. G458V ___________ ___________ __________________

26. G1349D ___________ ___________ __________________

27. W846X ___________ ___________ __________________

28. 1717-1G->T __________ ___________ __________________

29. N1303K ___________ ___________ __________________

30. Y563N ___________ ___________ __________________

31. Y913C ___________ ___________ __________________

32. R553Q ___________ ___________ __________________

33. S549R(A->C)__________ ___________ __________________

34. P547H ___________ ___________ __________________

35. 1154insTC ___________ ___________ __________________

36. 1214delT ___________ ___________ __________________

37. 3659delC ___________ ___________ __________________

38. 556delA ___________ ___________ __________________

39. 621+1G->T ___________ ___________ __________________

40. E1371X ___________ ___________ __________________