ABCMdb

PMID: 15905293

Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Val201Met ABCC7 p.Ser895Asn ABCC7 p.Asn287Lys ABCC7 p.Met469Ile RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients. Login to comment 7 ABCC7 p.Ser895Asn ABCC7 p.Asn287Lys ABCC7 p.Met469Ile p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel. Login to comment 39 ABCC7 p.Asn287Lys However, no classic CF symptoms were identified in any of Table I. CFTR genotypes and clinical information in Taiwanese CBAVD patients PID Genotype IVS8 T n, (TG)n M470V Kidney Seminal vesicles Semen analyses pH Fructose Both alleles identified 1 10 IVS8-5T/IVS8-5T (TG)12 5T/(TG)12 5T V/V N BHy 2 34 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V N BA 6.5 Neg 3 38 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V N RA þ LHy 6 Neg 4 42 IVS8-5T/IVS8-5T (TG)13 5T/(TG)13 5T M/M 5 49 IVS8-5T/IVS8-5T (TG)12 5T/(TG)12 5T V/V 8 Pos 6 50 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V 7 60 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V One allele identified 8 18 N287K/? Login to comment 40 ABCC7 p.Val201Met (TG)11 7T/(TG)11 7T V/V N BHy 9 40 V201M/? Login to comment 44 ABCC7 p.Met469Ile (TG)12 7T/(TG)12 7T M/M N BHy 6 Neg 11 58 M469I/? Login to comment 45 ABCC7 p.Ser895Asn (TG)11 7T/(TG)11 7T M/V 12 61 S895N/? Login to comment 70 ABCC7 p.Leu375Phe (TG)11 7T/(TG)12 7T V/V N BHy 6 Neg 37 53 D F508/L375F (Canadian) (TG)10 7T/(TG)11 9T M/V N = normal; B = bilateral; Hy = hypoplasia; A = aplasia; R = right; L = left; Neg = negative; Pos = positive. Login to comment 107 ABCC7 p.Met469Ile These novel mutations include p.M469I (1539G . Login to comment 109 ABCC7 p.Asn287Lys T) in the first ATP-binding fold, p.N287K (993C . Login to comment 111 ABCC7 p.Ser895Asn G) in the first transmembrane-spanning domain and p.S895N (c.2684 G . Login to comment 114 ABCC7 p.Asn287Lys The p.N287K mutation which changes a non-charged amino acid asparagine to a highly positively charged lysine in the hydrophobic transmembrane span is predicted to cause some structural/functional effect. Login to comment 115 ABCC7 p.Met469Ile ABCC7 p.Met469Val Although the p.M469I mutation has never been reported, mutation at the same amino acid, p.M469V, has been found in CBAVD patients (http://genet.sickkids.on.ca). Login to comment 116 ABCC7 p.Ser895Asn The novel missense p.S895N mutation is predicted to be a mild change. Login to comment 117 ABCC7 p.Val201Met Another mutation was p.V201M (733G . Login to comment 120 ABCC7 p.Val201Met The p.V201M mutation has been reported in other patients with CBAVD (http://genet. Login to comment 129 ABCC7 p.Leu375Phe Two mutations, DF508 and p.L375F, were found (Table I, patient 37). Login to comment 155 ABCC7 p.Met469Ile T (p.M469I); arrow 2 = c.1408A . Login to comment 158 ABCC7 p.Asn287Lys G (p.N287K). Login to comment 160 ABCC7 p.Ser895Asn A (p.S895N). Login to comment 161 ABCC7 p.Asp1152His and numerous CFTR mutations in Caucasians, the Turkish study found a p.D1152H mutation that occurred at an unexpected high frequency (15%), suggesting that a specific mutation profile may be responsible for CBAVD patients in a particular population (Dayangac et al., 2004). Login to comment