ABCMdb

PMID: 15528020

Cohn JA, Mitchell RM, Jowell PS
The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis.
Gastroenterol Clin North Am. 2004 Dec;33(4):817-37, vii., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCC7 p.Arg117His Twelve alleles were found to have common CFm-v mutations, including 5T in 10 patients and R117H in two patients. Login to comment 74 ABCC7 p.Pro574His ABCC7 p.Asp1152His ABCC7 p.Gly1069Arg When these six nominal CF carriers were tested further by DNA sequencing, rare mutations were identified in five cases (D1152H, P574H, G1069R, 3120G > A; each detected rare mutation is mild-variable [18,30,48,49]. Login to comment 78 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg352Gln ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Glu217Gly ABCC7 p.Leu967Ser ABCC7 p.Gly1069Arg ABCC7 p.Gln1476* ABCC7 p.Val562Ile ABCC7 p.Ala1136Thr The European data Table 1 Abnormal CFTR and PSTI genotypes detected in two studies of idiopathic chronic pancreatitis* CFTR genotype category N Genotypes detected in individual subjects US study (Noone et al [47]) CFsev / CFm-v compound heterozygotes 8 DF508 / R117H-7T**; DF508 / 5T; DF508 / 5T; DF508 / D1152H; DF508 / D1152H; DF508 / P574H; DF508 / 3120G>A; 621þ1G>T/G1069R CFm-v / CFm-v compound heterozygotes 1 5T / 5T** CFsev / - (CF carriers) 1 N1303K / - CFm-v / - 7 R117H-7T / -; 5T / -**; 5T / -; 5T / -; 5T / -; 5T / -; 5T / - Normal (- / -) CFTR genotype 22 1 was homozygous for the N34S PSTI mutation; 5 were N34S carriers European study (Audrezet et al [50]) CFsev / CFm-v compound heterozygotes 4 DF508/R352Q; DF508/P5L; DF508/Q1476X; W1282X/5T*** CFm-v / CFm-v compound heterozygotes 2 V562I/5T; E217G/A1136T CFsev / - (CF carriers)**** 3 DF508 / -; DF508 / -; G542X / - CFm-v / - 9 L967S/-**; IVS18-20T>C/-**; c.4575þ2G>A/-; IVS3-6T>C; 5T/-; 5T/-; 5T/-; 5T/-; 5T/- Normal (- / -) CFTR genotype 17 1 was homozygous for the N34S PSTI mutation; 1 was a N34S carrier * CFTR mutations were classified as causing either severe (CFsev ) or mild-variable loss-of-function (CFm-v ) [18,47]; all detected CFsev mutations are CF-causing mutations according to current consensus criteria [79]. Login to comment 82 ABCC7 p.Asn1303Lys **** A fourth patient had N1303K / - (CFTR), but was not available for further testing. Login to comment