ABCMdb

PMID: 20657600

Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.
Asian J Androl. 2010 Nov;12(6):819-26. Epub 2010 Jul 26., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Thr338Ile ABCC7 p.Leu1065Pro ABCC7 p.Arg1158* ABCC7 p.Arg1070Gln ABCC7 p.Gln552* ABCC7 p.Asp1152His ABCC7 p.Arg1066His ABCC7 p.Glu217Gly ABCC7 p.Glu60* ABCC7 p.Arg334Gln ABCC7 p.Asp579Gly ABCC7 p.Ile502Thr INNO-LiPA CFTR19 INNO-LiPA CFTR17 INNO-LiPA CFTR Italian regional [delta]F508 621+1G>T 1259insA G542X 3849+10kbC>T 4016insT N1303K 2183AA>G 4382delA W1282X 394delTT 852del22 G551D 2789+5G> A R1162X D579G 1717-1G>A 3659delC G1244E R553X R117H G1349D CFTRdele2,3 (21 kb) R334W I502T [delta]I507 R347P L1065P 711+1G>T G85E R1158X 3272-26A>G 3905insT 1078delT T338I R560T A455E S549R(A>C) 1898+1G>A S1251N 2143delA 711+5G>A 991del5 I148T E60X D1152H 3199del6 3120+1G>A 2184delA 1898+3A>G, R1070Q Q552X Poli-T tract variations R1066H R347H 621+3A>G R334Q E217G Abbreviation: CFTR, cystic fibrosis transmembrane conductance regulator. Login to comment 64 ABCC7 p.Trp1282* ABCC7 p.Gly542* The detected genotypes consisted of [delta] F508/5T in five cases (pats. 1-5), G542X/5T in two cases (pats. 6 and 7) and W1282X/5T in the last patient (pat. 8). Login to comment 70 ABCC7 p.Thr338Ile In both cases, the second detected mutation was T338I, which consists of a T-to-C change in exon 7, nucleotide 1145. Login to comment 77 ABCC7 p.Ile105Asn Patient 15 exhibited a T-to-A change in exon 4, nucleotide 446, which leads to the substitution of an isoleucine with an asparagine in position 105 of the CFTR protein (I105N) . Login to comment 81 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Thr338Ile ABCC7 p.Thr338Ile ABCC7 p.Thr338Ile ABCC7 p.Thr338Ile ABCC7 p.Ile105Asn ABCC7 p.Ile105Asn Patient First-level CFTR screening CFTR Italian MLPA analysis DHPLC analysis Final genotype (36 mutations + 5T allele) regional kit 1 [delta]F508/5T - - - [delta]F508/5T 2 [delta]F508/5T - - - [delta]F508 /5T 3 [delta]F508/5T - - - [delta]F508/5T 4 [delta]F508/5T - - - [delta]F508/5T 5 [delta]F508 /5T - - - [delta]F508/5T 6 G542X/5T - - - [delta]F508/5T 7 G542X/5T - - - [delta]F508/5T 8 W1282X/5T - - - W1282X/5T 9 [delta]F508/wt [delta]F508/T338I - - [delta]F508/T338I 10 [delta]F508/wt [delta]F508/wt [delta]F508/wt [delta]F508/wt [delta]F508/wt 11 5T/wt 5T/T338I - - 5T/T338I 12 5T/wt 5T/wt 5T/del ex1 - 5T/del ex1 13 5T/wt 5T/wt 5T/del ex19 - 5T/del ex19 14 5T/wt 5T/wt 5T/wt 5T/2811G/T 5T/2811G/T 15 5T/wt 5T/wt 5T/wt 5T/I105N 5T/I105N 16 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 17 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 18 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 19 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 20 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 21 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 22 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt 23 5T/wt 5T/wt 5T/wt 5T/wt 5T/wt Detection rate 8/23 (34.8%) 2/15 (13.3%) 2/13 (15.3%) 2/11 (18.1%) 14/23 (60.8%) Abbreviations: CFTR, cystic fibrosis transmembrane conductance regulator; DHPLC, denaturing high-performance liquid chromatography; MLPA, multiple ligation-dependent probe amplification; wt, wildtype. Login to comment 106 ABCC7 p.Thr338Ile In two patients, the mutation was detected by using reverse dot-blot analysis (T338I). Login to comment 108 ABCC7 p.Ile105Asn In the remaining two patients, DHPLC analysis revealed a 2811G/T and an I105N sequence change. Login to comment 111 ABCC7 p.Thr338Ile The missense T338I mutation, detected in two patients by the Italian Regional kit, is typical of the Sardinia region, where it accounts for about 10% of all the mutated CFTR alleles [25]. Login to comment 114 ABCC7 p.Thr338Ile Because no data are available regarding the frequency of this mutation in the Abruzzo population, it was not possible to exclude that T338I is also a common mutation in this region. Login to comment 115 ABCC7 p.Thr338Ile When present in compound heterozygosity with a severe CFTR mutation, the T338I mutation has been reported to cause a mild form of CF characterized by isolated hypotonic dehydration [26]. Login to comment 117 ABCC7 p.Gly542* This mutation has also been detected in two CBAVD patients in compound heterozygosity with the G542X mutation [8]. Login to comment 118 ABCC7 p.Thr338Ile Thus, the T338I mutation can be considered as a mild CFTR mutation. Login to comment 122 ABCC7 p.Gln890* ABCC7 p.Ile105Asn The missense I105N mutation, which was detected in one case by DHPLC, has been previously reported in one patient with full-blown CF in compound heterozygosity with the Q890X mutation (Cystic Fibrosis Mutation Database, Mutation Details) [8]. Login to comment