ABCMdb

PMID: 11298840

Attardo T, Vicari E, Mollica F, Grazioso C, Burrello N, Garofalo MR, Lizzio MN, Garigali G, Cannizzaro M, Ruvolo G, D'Agata R, Calogero AE
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.
Int J Androl. 2001 Apr;24(2):73-9., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Leu1077Pro We investigated the following 11 CFTR mutations: DF508, G542X, R553X, N1303K, W1282X, R347P, L1077P, 2183AA ® G, 1717±1G > A, R1162X, and R117H. Login to comment 52 ABCC7 p.Arg117His In the panel, we also included the R117H which, although absent in our CF patients, has been reported in the literature with signi®cant frequency in CBAVD patients (Gervais et al., 1993; Patrizio et al., 1993; Schlegel et al., 1995). Login to comment 61 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Gly542* The other mutations found were: W1282X in four patients, G542X in two patients, R347P in one patient and R553X in one patient. Login to comment 63 ABCC7 p.Gly542* The patient with CUAVD had the G542X mutation associated with the 5T allele (Table 1). Login to comment 64 ABCC7 p.Leu1077Pro Of the 27 wives tested, 2 (7.4%) were found to be carriers of one CF mutation (L1077P and DF508). Login to comment 65 ABCC7 p.Arg553* Their husbands had the R553X and the 5T alleles, respectively. Login to comment 66 ABCC7 p.Trp1282* ABCC7 p.Gly542* Four wives (14.8%) had the 5T allelic variant and of their husbands, two had the alleles G542X or W1282X and two had no mutations. Login to comment 87 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* 38) with CUAVD Patient Age (years) Mutation/ 5T allele Sweat test Steatocrit FEV1 Other clinical features 1 38 R347P/ND Normal ND ND ND 2 29 DF508/ND ND ND ND ND 3 37 ±/ND ND ND ND ND 4 38 ±/ND ND ND ND ND 5 29 DF508/ND Normal ND = ND 6 40 ±/ND Normal ND = ND 7 32 DF508/ND Borderline ND = ND 8 29 DF508/ND ND ND ND ND 9 41 ±/ND Borderline ND ¯ ND 10 32 DF508/± Normal = = RB 11 35 R553X/± Borderline - = RB 12 29 ±/ND Borderline - = Diarrhoea 13 37 ±/ND Abnormal = = Sinusitis 14 36 W1282X/± Normal - = Recurrent bronchitis 15 35 G542X/± Abnormal = ¯ ± 16 34 W1282X/5T Abnormal = = Diarrhoea 17 31 ±/5T Abnormal = = ± 18 22 ±/± Borderline - = Diarrhoea 19 27 G542X/± Abnormal = = Recurrent bronchitis 20 35 ±/± Abnormal - = Recurrent bronchitis 21 33 W1282X/± Abnormal = ND Sinusitis, diarrhoea 22 30 DF508/5T Abnormal - = ± 23 20 ±/± Abnormal = = Sinusitis, diarrhoea 24 39 ±/± Normal = ¯ Asthma, collapse 25 35 ±/5T Normal - ¯ Sinusitis, diarrhoea 26 26 W1282X/5T Abnormal - = ± 27 35 ±/± Normal - = ± 28 30 DF508/5T Normal - = ± 29 29 DF508/ND ND ND ND Collapse 30 35 ±/5T Normal = ¯ ± 31 36 DF508/5T Borderline = ¯ Sinusitis, asthma, collapse, polyps 32 41 ±/5T Normal - ¯ Recurrent respiratory infection 33 39 ±/5T Normal = ¯ Sinusitis 34 27 DF508/5T Borderline - = ± 35 39 ±/± Normal ND ¯ Diarrhoea 36 37 ±/± Normal - = Polyps 37 40 ±/± Abnormal - ¯ Asthma, recurrent respiratory infection 38 29 G542X/5T Borderline - ¯ Diarrhoea ND: Not determined; ±: absence of mutations or clinical features; =: unchanged; -: increased; ¯: decreased. Login to comment 97 ABCC7 p.Trp1282* ABCC7 p.Gly542* As shown elsewhere (Dumur et al., 1990; Anguiano et al., 1992), the presence of DF508 was the commonest mutation observed in patients with CBAVD, followed by W1282X and G542X. Login to comment 98 ABCC7 p.Trp1282* ABCC7 p.Gly542* DF508 is also the most frequent mutation found in patients with CF, followed by G542X and W1282X (F. Mollica et al., unpublished data). Login to comment 99 ABCC7 p.Arg117His Interestingly, none of our CBAVD patients had the R117H mutation which has been found with a relatively high frequency in these patients (Gervais et al., 1993; Patrizio et al., 1993; Schlegel et al., 1995), This mutation is also extremely rare in patients with CF in Italy and in other European countries (Chillon et al., 1994; Estivill et al., 1997; Rendine et al., 1997). Login to comment 114 ABCC7 p.Gly542* The patient with CUAVD presented with a G542X/5T genotype and had also an abnormal sweat test, reduced FEV1, steatorrhoea and symptoms of digestive dysfunction. Login to comment