ABCMdb

PMID: 16051530

Kinnunen S, Bonache S, Casals T, Monto S, Savilahti E, Kere J, Jarvela I
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
J Cyst Fibros. 2005 Dec;4(4):233-7. Epub 2005 Jul 26., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Ser589Thr Results: A total of 14 mutations were identified; two of them new, 774insT and S589T (G>C at 1898). Login to comment 6 ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser945Leu ABCC7 p.Ser1196* ABCC7 p.Ser589Thr ABCC7 p.Trp57Arg G542X, R1162X, R117H, 3732delA, 1898+3A>C, S1196X, S945L, W57R, 774insT and S589T were each identified in a number of chromosomes from one to three. Login to comment 22 ABCC7 p.Gly542* Journal of Cystic Fibrosis 4 (2005) 233 - 237 www.elsevier.com/locate/jcf Only two other mutations, G542X (c.1624G>T, p.Gly542X) and 3732delA (c.3600delA, p.Asp1201fs), were each identified in one CF chromosome out of 40. Login to comment 23 ABCC7 p.Gly542* Journal of Cystic Fibrosis 4 (2005) 233 - 237 www.elsevier.com/locate/jcf Only two other mutations, G542X (c.1624G>T, p.Gly542X) and 3732delA (c.3600delA, p.Asp1201fs), were each identified in one CF chromosome out of 40. Login to comment 36 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ser1251Asn ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Arg560Thr ABCC7 p.Gln552* ABCC7 p.Glu60* The InnoLipa assay recognizes 36 mutations: E60X (c.178G>T, p.Glu60X), G85E (c.254G>A, p.Gly85- Glu), 394delTT, R117H (c.350G>A, p.Arg117His), I148T (c.443T>C, p.Ile148Thr), 621+1G>T (c.489+1G>T), 711+1G>T (c.579+1G>T), 711+5G>A (c.579+5G>A), 1078delT (c.948delT, p.Phe316fs), R334W (c.1000C>T, p.Arg334Trp), R347P (c.1040G>C, p.Arg347Pro), A455E (c.1364C>A, p.Ala455Glu), I507del (c.1519_1521delATC, p.Ile507del), F508del, 1717À1G>A (c.1585À1G>A), G542X, G551D (c.1652G >A, p.Gly551Asp), Q552X (c.1654C > T, p.Gln552X), R553X (c.1657C > T, p.Arg553X), R560T (1679G>vC, p.Arg560Thr), 1898+ 1G > A (c.1766 + 1G > A), 2143delT (c.2012delT, p.Leu671fs), 2183AA > G (c.2051_2052delAAinsG, p.Lys684fs), 2184delA (c.2052delA, p.Lys684fs), 2789+ 5G>A (c.2657+5G>A), 3120+1G>A (c.2988+1G>A), 3199del6 (c.3067_3072del, p.Ile1023_Val1024del), 3272À 26A > G (c.3140 À26A > G), R1162X (c.3484C > T, p.Arg1162X), 3849+10kbCYT, 3659delC (c.3528delC, p.Lys1177fs), S1251N (c.3752G > A, p.Ser1251Asn), 3905insT (c.3773dupT, p.Leu1258fs), W1282X (c.3846G> A, p.Trp1282X), N1303K (c.3909C>G, p.Asn1303Lys), CFTRdele2,3(21kb) and Tn-polymorphism on intron 8. Login to comment 37 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ser1251Asn ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Arg560Thr ABCC7 p.Gln552* ABCC7 p.Glu60* The InnoLipa assay recognizes 36 mutations: E60X (c.178G>T, p.Glu60X), G85E (c.254G>A, p.Gly85Glu), 394delTT, R117H (c.350G>A, p.Arg117His), I148T (c.443T>C, p.Ile148Thr), 621+1G>T (c.489+1G>T), 711+1G>T (c.579+1G>T), 711+5G>A (c.579+5G>A), 1078delT (c.948delT, p.Phe316fs), R334W (c.1000C>T, p.Arg334Trp), R347P (c.1040G>C, p.Arg347Pro), A455E (c.1364C>A, p.Ala455Glu), I507del (c.1519_1521delATC, p.Ile507del), F508del, 1717 1G>A (c.1585 1G>A), G542X, G551D (c.1652G >A, p.Gly551Asp), Q552X (c.1654C > T, p.Gln552X), R553X (c.1657C > T, p.Arg553X), R560T (1679G>vC, p.Arg560Thr), 1898+ 1G > A (c.1766 + 1G > A), 2143delT (c.2012delT, p.Leu671fs), 2183AA > G (c.2051_2052delAAinsG, p.Lys684fs), 2184delA (c.2052delA, p.Lys684fs), 2789+ 5G>A (c.2657+5G>A), 3120+1G>A (c.2988+1G>A), 3199del6 (c.3067_3072del, p.Ile1023_Val1024del), 3272 26A > G (c.3140 26A > G), R1162X (c.3484C > T, p.Arg1162X), 3849+10kbCYT, 3659delC (c.3528delC, p.Lys1177fs), S1251N (c.3752G > A, p.Ser1251Asn), 3905insT (c.3773dupT, p.Leu1258fs), W1282X (c.3846G> A, p.Trp1282X), N1303K (c.3909C>G, p.Asn1303Lys), CFTRdele2,3(21kb) and Tn-polymorphism on intron 8. Login to comment 51 ABCC7 p.Ser589Thr ABCC7 p.Ser589Thr Two of them, 774insT (c.642_ 643insT, p.Ile215fs) in exon 6a and S589T (c.1766G>C, p.Ser589Thr) in exon 12, have not been previously described. Login to comment 52 ABCC7 p.Ser589Thr ABCC7 p.Ser589Thr Two of them, 774insT (c.642_ 643insT, p.Ile215fs) in exon 6a and S589T (c.1766G>C, p.Ser589Thr) in exon 12, have not been previously described. Login to comment 68 ABCC7 p.Arg117His Both of the R117H mutations were situated in Northern Finland. Login to comment 69 ABCC7 p.Arg117His Both of the R117H mutations were situated in Northern Finland. Login to comment 71 ABCC7 p.Ser589Thr Novel mutations 774insT and S589T A novel mutation, 744insT, was discovered in exon 6a of the CFTR gene. Login to comment 72 ABCC7 p.Ser589Thr Novel mutations 774insT and S589T A novel mutation, 744insT, was discovered in exon 6a of the CFTR gene. Login to comment 77 ABCC7 p.Ser589Thr The second novel mutation, S589T, was found in exon 12. Login to comment 78 ABCC7 p.Ser589Thr The second novel mutation, S589T, was found in exon 12. Login to comment 84 ABCC7 p.Ser589Thr The patient with S589T had F508del on the other chromosome and the phenotype was pancreatic sufficient without meconium ileus. Login to comment 85 ABCC7 p.Ser589Thr The patient with S589T had F508del on the other chromosome and the phenotype was pancreatic sufficient without meconium ileus. Login to comment 94 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser945Leu ABCC7 p.Ser945Leu ABCC7 p.Ser1196* ABCC7 p.Ser589Thr ABCC7 p.Ser589Thr ABCC7 p.Trp57Arg ABCC7 p.Trp57Arg 394delTT has been suggested to have a Table 1 Spectrum of CFTR mutations in Finland Mutation Recommended nomenclature/nucleotide Recommended nomenclature/protein Exon/Intron N % F508del c.1520_1522delTCT p.Phe508del E 10 37 36 394delTT c.262_263delTT p.Leu88fs E 3 36 35 CFTRdele2,3(21kb) E2 and E3 6 5.9 3659delC c.3528delC p.Lys1177fs E 19 6 5.9 1898+3A>C c.1766+3A>C I 12 3 2.9 R117H c.350G>A p.Arg117His E 4 2 2 S945L c.2834C>T p.Ser945Leu E 15 2 2 W57R c.169T>C p.Trp57Arg E 3 1 1 774insT c.642_643insT p.Ile215fs E 6a 1 1 G542X c.1624G>T p.Gly542X E 11 1 1 S589T c.1766G>C p.Ser589Thr E 12 1 1 R1162X c.3484C>T p.Arg1162X E 19 1 1 S1196X c.3587C>G p.Ser1196X E 19 1 1 3732delA c.3600delA p.Asp1201fs E 19 1 1 Unknown 2.9 Total 102 100 Reference sequence is Genbank NM_000492.2. Login to comment 95 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser945Leu ABCC7 p.Ser945Leu ABCC7 p.Ser1196* ABCC7 p.Ser589Thr ABCC7 p.Ser589Thr ABCC7 p.Trp57Arg ABCC7 p.Trp57Arg 394delTT has been suggested to have a Table 1 Spectrum of CFTR mutations in Finland Mutation Recommended nomenclature/nucleotide Recommended nomenclature/protein Exon/Intron N % F508del c.1520_1522delTCT p.Phe508del E 10 37 36 394delTT c.262_263delTT p.Leu88fs E 3 36 35 CFTRdele2,3(21kb) E2 and E3 6 5.9 3659delC c.3528delC p.Lys1177fs E 19 6 5.9 1898+3A>C c.1766+3A>C I 12 3 2.9 R117H c.350G>A p.Arg117His E 4 2 2 S945L c.2834C>T p.Ser945Leu E 15 2 2 W57R c.169T>C p.Trp57Arg E 3 1 1 774insT c.642_643insT p.Ile215fs E 6a 1 1 G542X c.1624G>T p.Gly542X E 11 1 1 S589T c.1766G>C p.Ser589Thr E 12 1 1 R1162X c.3484C>T p.Arg1162X E 19 1 1 S1196X c.3587C>G p.Ser1196X E 19 1 1 3732delA c.3600delA p.Asp1201fs E 19 1 1 Unknown 3 2.9 Total 102 100 Reference sequence is Genbank NM_000492.2. Login to comment 109 ABCC7 p.Gly542* An exception is G542X, which is one of the five mutations that have relative world frequencies higher than 1%. Login to comment 110 ABCC7 p.Gly542* An exception is G542X, which is one of the five mutations that have relative world frequencies higher than 1%. Login to comment 111 ABCC7 p.Arg117His ABCC7 p.Arg1162* Some other rare mutations that were detected in Finland also reach relatively high frequencies in specific areas: 3732delA in Russia; R117H in Norway and in the Celtic countries; R1162X in Northern Italy (although multi- ethnicity and recurrence has been demonstrated for this mutation) [3,14]. Login to comment 112 ABCC7 p.Arg117His ABCC7 p.Arg1162* Some other rare mutations that were detected in Finland also reach relatively high frequencies in specific areas: 3732delA in Russia; R117H in Norway and in the Celtic countries; R1162X in Northern Italy (although multi- ethnicity and recurrence has been demonstrated for this mutation) [3,14]. Login to comment 116 ABCC7 p.Ser589Thr S. Kinnunen et al. / Journal of Cystic Fibrosis (2005) 233-237236 Both of the novel mutations 744insT and S589T were found in the coastal areas of Finland that have traditionally had most connections to the neighboring countries and are genetically most mixed. Login to comment 117 ABCC7 p.Ser589Thr Both of the novel mutations 744insT and S589T were found in the coastal areas of Finland that have traditionally had most connections to the neighboring countries and are genetically most mixed. Login to comment 120 ABCC7 p.Arg117His The other two patients were both from northern Finland and carried R117H on the other chromosome. Login to comment 121 ABCC7 p.Arg117His ABCC7 p.Arg117His Both R117H mutations were in combination with 7T variant on the T-tract of intron 8. Login to comment 122 ABCC7 p.Arg117His Both R117H mutations were in combination with 7T variant on the T-tract of intron 8. Login to comment