Table 3: Unusually common cystic fibrosis mutations in specific populations

Footnotes to table 3.
Name of mutation Location in CFTR Location (Ethnic origin) Number observed Total number screened % Contributors/Institute
Europe, North
E60X exon 3 Belgium (Caucasian) 4 194 2.1 Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium
Belgium (Belgian) 2 200 1.0 Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg),Belgium
1078delT exon 7 (TM5) Brittany (Celtic) 27 475 5.7 Férec C, Mercier B, Audrezet MP, Centre Dept Transfusion Sanguine,Brest,France
1161delC exon 7 (TM6) England, North-West (Pakistani) 2 24 8.3 Schwarz M, Malone GM, Super M, Royal Manchester Children's Hospital, UK
296+12T->C intron 2 England, North-West (Pakistani) 2 24 8.3 Schwarz M, Malone GM, Super M, Royal Manchester Children's Hospital, UK
G91R exon 3 (TM1) France 4 266 1.5 Geldmann D, Aymard P, Trousseau Hospital, Paris, France
S1235R exon 19 (NBF2) France, South (Mediterranean) 4 340 1.2 Claustres M, DesGeorges M, Laussel M, Institut de Biologie, Montpellier, France
2143delT exon 13 (R-domain) Moscow (Russian) 4 118 3.4 Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France
Germany (Caucasian) 2 206 1 Reis A, Varon R, Sperling K, Freie Universität Berlin, Germany
3272-26A->G intron 17a Portugal (Portugese) 3 105 2.8 Duarte A, Pacheco P, Lavinha J, Inst Nacional de Saude, Lisboa, Portugal
France (mostly French) 3 281 1.1 Costes B, Ghanem N, Goossens M, Lab GénétMoléc,CHUHMondor,Créteil, France
Belgium (Belgian) 2 200 1.0 Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium
394delTT exon 3 (TM1) Sweden (Swedish) 24 368 6.5 Anvret M, Stolpe L, Karolinska Hospital, Stockholm, Sweden
13 182 7.1 Holmberg L, Schaedel C, University Hospital, Lund, Sweden
3 84 3.6 Macek M Jr, Dahl N, Kollberg H, Charles University, Prague, The Czech Republic
Finland (Finnish) 12 40 30.0 Kere J, Estivill X, de la Chapelle A, University of Helsinki, Finland
Denmark 10 624 1.6 Schwartz M, University of Copenhagen, Denmark
Norway 7 158 4.4 Eiklid K, Ullevál University Hospital, Oslo, Norway
2 38 5.5 Tranebjaerg L, Regional Hospital, Tromsø, Norway
1 46 2.2 Eiken G, Haukeland Hospital, Bergen, Norway
Estonia 6 48 12.5 Teder M, University of Tartu, Estonia
S1251N exon 20 (NBF2) The Netherlands (Dutch) 5 398 1.3 Scheffer H, Dijktra D-JW, Buys CHCM, Univ Groningen, The Netherlands
Belgium (Belgian) 4 200 2.0 Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium
2 194 1.0 Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium
Y122X exon 4 (TM2) Réunion Island 14 29 48 Kitzis A, Chomel JC, CHU-Cochin, Paris, France
2184insA exon 13 (R-domain (Russian)) Russia, Moscow 3 118 2.5 Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France
Bulgaria (Bulgarian) 2 166 1.2 Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria
3821delT exon 19 Russia, Moscow (Russian) 3 118 2.5 Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France
R1283M exon 20 (NBF2) Wales (Welsh) 3 183 1.6 Cheadle J, Meredith L, University of Wales College of Medicine,Cardiff,Wales
Europe, South
457TAT->G exon 4 Austria 4 334 1.2 Wagner K, Greil I, Rosenkranz W, University of Graz, Austria
1677delTA exon 10 (NBF1) Bulgaria (Bulgarian, Turkish) 5 222 2.3 Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria
R1070Q exon 17b Bulgaria (Bulgarian) 4 166 2.4 Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria
2183AA->G exon 13 (R-domain) Italy, North East 21 225 9.3 Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy
France (Mixed Caucasian) 11 1200 1 Chevalier-Porst F, Bonardot AM, Bozon D, Hôpital Debroussé, Lyon, France
Belgium (Belgian) 4 194 2.1 Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium
Bulgaria (Bulgarian) 2 187 1.1 Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria
Belgium (Belgian) 2 200 1.0 Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium
711+5G->A intron 5 Italy, North East (Caucasian) 6 225 2.7 Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy
T338I exon 7 (TM6) Italy, Sardinia 4 86 4.7 Cao A, Leoni GB, Rosatelli C, Universita' Studi Cagliari, Sardinia, Italy
Q552X exon 11 (NBF1) Italy, North East 3 225 1.3 Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy
R1066C exon 17b Portugal (Portugese) 5 105 4.8 Duarte A, Pacheco P, Lavinha J, Inst Nacional de Saude, Lisboa, Portugal
1811+1.2kbA->G (formerly 3601-111G->C) intron 11 (NBF1) Spain (Spanish) 19 972 1.9 Nunes V, Casals T, Estivill X, Cancer Research Institute, Barcelona, Spain
Spain, Zaragoza (Caucasian) 3 96 3.1 Palacio A, Casals T, Estivill X, Facaulty of Medicine, Zaragoza, Spain
1949del84 exon 13 (R-domain) Spain (Spanish) 2 136 1.5 Molano J, EzQuieta B, Granell R, Hospital La Paz, Madrid, Spain
1609delCA exon 10 (NBF1) Spain, Zaragoza (Caucasian) 3 96 3.1 Palacio A, Casals T, Estivill X, Faculty of Medicine, Zaragoza, Spain
3905insT exon 20 (NBF2) Switzerland (Swiss) 25 402 6.2 Malik N, Buhler E, Rutishauser M, Univ Children's Hospital Basel, Switzerland
N. America (Louisiana Acadian) 8 56 14.3 Klinger K, Hilman B, Integrated Genetics, Framingham, MA, USA
N. America (Amish/Mennonite) 5 30 16.7 Klinger K, Schwartz R, Fujiwara M, IntegratedGenetics,Framingham, MA,USA
America, North
M1101K exon 17b Canada (Hutterite) 22 32 69 Fujiwara M, Schwartz R, Morgan K, McGill Univ, Montreal, Quebec, Canada
Y1092X exon 17b Canada, Quebec (French Canadian) 7 444 1.6 Rozen R, Morgan K, Fujiwara M, McGill University, Montreal, Quebec, Canada
France (mostly French) 4 281 1.4 Costes B, Ghanem N, Goossens M, Lab GénétMoléc,CHUHMondor,Créteil, France
I148T exon 4 Canada, Quebec (French Canadian) 6 66 9.1 Morgan K, Thibault M, Fujiwara M, McGill Univ, Montreal, Quebec, Canada
3120+1G->A intron 16 (TM9) USA (African-American) 11 79 13.9 Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hospital, Baltimore,USA
America, Southeast (Black) 3 33 9.1 Friedman KJ, Heim R, Silverman L, Univ of North Carolina, Chapel Hill, NC, USA
A559T exon 11 (NBF1) USA (African-American) 2 79 2.5 Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hosp, Baltimore, USA
S1255X exon 20 (NBF2) USA (African-American) 2 79 2.5 Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hosp, Baltimore, USA
Asia
Q359K/T360K exon 7 Israel (Georgian Jews) 7 8 87.5 Shoshani T, Kerem B, Hebrew University of Jerusalem, Israel
S549I exon 11 (NBF1) Israel (Arabs) 2 40 5.0 Shoshani T, Kerem B, Hebrew University of Jerusalem, Israel
R347H exon 7 (TM6) Turkey 4 134 3 Coskun T, Özgüc M, Hacettepe University, Ankara, Turkey
1898+5G->T intron 12 Taiwan (Chinese) 3 10 30.0 Zielenski J, Tsui L-C, Lin S-P, The Hosp for Sick Children, Toronto, Canada