ABCMdb

PMID: 17003641

Keiles S, Kammesheidt A
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas. 2006 Oct;33(3):221-7., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Phe575Tyr ABCC7 p.Thr164Ser ABCC7 p.Leu1260Pro ABCC7 p.Ser573Cys ABCC7 p.Phe834Leu ABCC7 p.Lys598Glu ABCC7 p.Gly194Arg Results: The results identified 32% (122/381) of patients with 166 mutant CFTR alleles, including 12 novel CFTR variants: 4375-20 A9G, F575Y, K598E, L1260P, G194R, F834L, S573C, 2789 +17 C9T, 621+83 A9G, T164S, 621+25 A9G, and 3500-19 G9A. Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Arg74Trp ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Lys710* ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Arg297Gln ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Ile1027Thr ABCC7 p.Ile1139Val ABCC7 p.Phe1074Leu ABCC7 p.Gly1069Arg ABCC7 p.Gln1476* ABCC7 p.Phe311Leu ABCC7 p.Val855Ile ABCC7 p.Phe575Tyr ABCC7 p.Thr164Ser ABCC7 p.Leu1260Pro ABCC7 p.Phe834Leu ABCC7 p.Lys598Glu ABCC7 p.Gly194Arg ABCC7 p.Arg785Gln ABCC7 p.Arg74Gln ABCC7 p.Arg74Gln ABCC7 p.Leu320Val Patients With More Than 1 CFTR Mutation CFTR Mutation 1 CFTR Mutation 2 CFTR Mutation 3 No. of Patients deltaF508 5T 3 deltaF508 D1152H 1 deltaF508 deltaF508 1 deltaF508 F575Y 1 deltaF508 K598E 1 deltaF508 T164S 1 deltaF508 R74W D1270N 1 deltaF508 Q1476X 1 deltaF508 L997F 1 R553X D1152H 1 R553X G1069R 1 2789+5 G9A 2183 AA9G 1 3849+10kb C9T L1260P 1 711+3 A to G I1139V 1 1341+1 G9A G194R 5T 1 621+25 A9G 3500-19 C9T 1 R74W V855I 1 G542X R117H 1 G551D F311L 1 G576A R668C 2 K710X L997F 1 L997F L320V 1 G1069R 5T 1 1818+18 G9A 5T 1 F1074L 5T 1 F834L 5T 1 R74Q R297Q 1 R74Q R297Q 5T 1 R785Q 5T 1 R117H 5T 3 deltaF508 I1027T 1 Total patients 36 MutationsinboldfacewouldnothavebeendetectedbytheAmericanCollegeofObstetrics and Gynecology (ACOG)/American College of Medical Genetics (ACMG) mutation panel. Login to comment 65 ABCC7 p.Phe575Tyr ABCC7 p.Phe575Tyr F575Y A 9-year-old white boy with recurrent pancreatitis has a T9A transversion at nucleotide position 1856. This variation in exon 12 substitutes a tyrosine for phenylalanine at amino acid position 575. Login to comment 67 ABCC7 p.Lys598Glu K598E A 27-year-old white woman with recurrent pancreatitis and chronic airway disease has an A9G transversion at nucleotide position 1924. This variation changes a lysine to a glutamate at codon 598 within exon 13 of the CFTR gene. Missense mutations at this residue have not been described. This patient also carries a deltaF508 mutation. Login to comment 68 ABCC7 p.Leu1260Pro L1260P A 38-year-old white man with a history of pancreatitis with normal endoscopic retrograde cholangiopancreatography and chronic cough and sputum production has a T9C transversion at nucleotide position 3911. This variation changes a leucine to a proline at codon 1260 within exon 20 of the CFTR gene. This patient also carries a 3849+10kb C9T mutation. Login to comment 71 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* ABCC7 p.Val754Met ABCC7 p.Ile148Thr ABCC7 p.Leu206Trp ABCC7 p.Ser1235Arg ABCC7 p.Gln220* ABCC7 p.Tyr1092* ABCC7 p.Ser945Leu ABCC7 p.Asp1152His ABCC7 p.Arg668Cys ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Asp1445Asn ABCC7 p.Glu217Gly ABCC7 p.Leu967Ser ABCC7 p.Ala349Val ABCC7 p.Arg1453Trp ABCC7 p.Gln179Lys ABCC7 p.Ile807Met ABCC7 p.Phe316Leu ABCC7 p.Ser573Cys ABCC7 p.Phe1286Cys ABCC7 p.Ala1364Val ABCC7 p.Val562Ala Patients With 1 CFTR Mutation CFTR Mutation 1 No. of Patients 1717-1 G9A 1 2789+5 G9A 1 3849+10kb C9T 2 3849+45 G9A 1 621+3 A9G 2 A1364V 1 A349V 1 A455E 1 D1152H 1 D1445N 1 deltaF508 16 E217G 1 F1286C 1 F316L 1 G542X 1 G551D 1 I148T 1 I807M 1 L206W 1 L967S 2 L997F 2 P55S 1 Q179K 1 Q220X 1 R117H 3 R1453W 1 R297Q 1 R31C 1 R668C 2 S1235R 1 S573C 1 S945L 1 V562A 1 V754M 2 Y1092X 1 Total patients 58 MutationsinboldfacewouldnothavebeendetectedbytheACOG/ACMGmutationpanel. Login to comment 73 ABCC7 p.Leu1260Arg However, a T9G substitution at the same nucleotide position results in a deleterious mutation L1260R.29 Therefore, this mutation may have a similar effect. Login to comment 74 ABCC7 p.Gly194Arg G194R A 4-month-old African-American female infant with acute pancreatitis has a G9A transversion at nucleotide position 712. This variation changes a glycine to an arginine at codon 194 within exon 6a of the CFTR gene. This patient also carries a 1341+1 G9A mutation and a 5T variant in intron 8. Login to comment 76 ABCC7 p.Gly194Val ABCC7 p.Gly194Arg However, a G9T substitution at nucleotide position 713 results in a deleterious mutation G194V.29 We have also reported the G194R, 1341+1 G9A, and 5T variants in another African-American patient with CF from the same city. Login to comment 78 ABCC7 p.Phe834Leu F834L A 37-year-old white man with recurrent pancreatitis has a T9G transversion at nucleotide position 2634. This variation changes a phenylalanine to a leucine at codon 834 within exon 14a of the CFTR gene. Missense mutations at this residue have not been described. This patient also carries a 5T variant. Login to comment 79 ABCC7 p.Leu997Phe We have also identified this variant in a 7-year-old known affected boy who also carries a L997F mutation. Login to comment 80 ABCC7 p.Thr164Ser T164S A 14-year-old white boy with pancreatitis has an A9T transversion at nucleotide position 622. This changes a threonine to a serine within exon 5 of the CFTR gene. Missense mutations at this residue have not been described. This patient also carries a deltaF508 mutation. Login to comment 83 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Leu997Phe ABCC7 p.Arg75* ABCC7 p.Asp1445Asn ABCC7 p.Gln1352His Patients With SPINK1 and CFTR Mutations SPINK Mutation 1 SPINK Mutation 2 SPINK1 Mutation 3 CFTR Mutation 1 CFTR Mutation 2 No. of Patients 5¶UTR-147 A9G W1282X 1 5¶UTR-41 G9A 5¶UTR-41 G9A D1445N 1 5¶-41 G9A D1270N R74W 1 5¶UTR-81 C9T deltaF508 5T 1 IVS3+184 T9A S1235R 1 IVS3+184 T9A 5T 1 IVS3+184 T9A deltaF508 5T 1 IVS-72delCT R75X 1 L12F IVS3+90 A9T 296+28 A9G 1 L12F IVS3+90 A9T 4375-20 A9G 1 M1R 5¶UTR-147 A9G 5T 1 N34S IVS3-66-65insTTTT N37S Q1352H 1 N34S IVS3-66-65insTTTT L997F 1 N34S 5T 1 N34S IVS3-66-65insTTTT 5T 3 N34S IVS3-66-65insTTTT IVS1-37T 9C deltaF508 R117H 1 N34S IVS3-66-65insTTTT IVS1-37T9C R117H 5T 1 N34S IVS3-66-65insTTTT 621+83 A9G 1 N34S IVS3-66-65insTTTT IVS1-37T9C deltaF508 S1235R 1 Total patients 21 CFTR mutations in boldface would not have been detected by the ACOG/ACMG mutation panel. Login to comment 87 ABCC7 p.Ser573Cys S573C A Hispanic male undergoing a diagnostic pancreatitis panel has a C9G transversion at nucleotide position 1850. Login to comment 106 ABCC7 p.Met952Thr No other sequence variants or mutations were detected in the PRSS1, SPINK1, or CFTR genes in this patient. We havesubsequently identified this same variant in 2 other individuals, a 35-year-old white woman with recurring acute pancreatitis, in addition to a 17-year-old white girl with CP who also carried a M952T CFTR mutation. Login to comment 112 ABCC7 p.Thr908Asn However, this patient also carries a T908N mutation in the CFTR gene. Login to comment 113 ABCC7 p.Gln1352His G208A A 12-year-old Asian boy with pancreatitis was found to be homozygous for the G9C substitution in codon 208 of the PRSS1 gene. This changes a glycine to an alanine within exon 5. This patient was also found to carry the deltaF508 and Q1352H mutations in the CFTR gene. Therefore, this patient is affected with a form of CF, and the G208A variant in the PRSS1 gene may represent a benign sequence variation. Login to comment 116 ABCC7 p.Gly551Asp ABCC7 p.Thr908Asn ABCC7 p.Gln1352His Patients With CFTR and PRSS1 Mutations CFTR Mutation 1 CFTR Mutation 2 PRSS1 Mutation 1 PRSS1 Mutation 2 No. of Patients 5T E79K 1 5T R122H 1 2789+17 C9T C139S 1 deltaF508 N29I 1 deltaF508 Q1352H G208A G208A 1 G551D R122H 1 T908N IVS4-8 C9T IVS4-11 C9T 1 Total patients 7 CFTR mutations in boldface would not have been detected by the ACOG/ACMG mutation panel. Login to comment