ABCMdb

PMID: 15749233

Cohn JA, Mitchell RM, Jowell PS
The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis.
Clin Lab Med. 2005 Mar;25(1):79-100., [PubMed]

Sentences

No. Mutations Sentence Comment

75 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 77 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 90 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 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 95 ABCC7 p.Asn1303Lys **** A fourth patient had N1303K / - (CFTR), but was not available for further testing. Login to comment