ABCMdb

PMID: 19298730

Radpour R, Taherzadeh-Fard E, Gourabi H, Aslani S, Vosough Dizaj A, Aslani A
Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene.
Reprod Biomed Online. 2009 Mar;18(3):327-32., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Arg117His This patient carried a [TG11 T9 ; R117H; p.Met470Val] haplotype on the other chromosome. Login to comment 10 ABCC7 p.Arg117His Since the TG13 T2 allele was a compound heterozygote with R117H mutation, it was difficult to judge the severity of this allele. Login to comment 56 ABCC7 p.Arg117His Whole gene screening for base substitutions and exon rearrangements identified the R117H mutation and M470V polymorphism. Login to comment 57 ABCC7 p.Arg117His The T2 allele was found to be associated with haplotype [TG13 T2 ; p.Met470], while haplotype [TG11 T9 ; p.Val470; R117H] was present on the other allele (Table 1). Login to comment 64 ABCC7 p.Arg117His Trans-abdominal ultrasonography in patient with R117H and IVS8-2T mutations. Login to comment 68 ABCC7 p.Arg117His Mutation type IVS8-(TG)m Tn M470V R117H TG11 T9 /TG13 T2 M/V Mutation genotypes were designated following the recommended nomenclature (Beaudet and Tsui, 1993). Login to comment 94 ABCC7 p.Arg117His Since the TG13 T2 allele was a compound heterozygote with R117H, it was difficult to judge the severity of thisallele and its role in the CBAVD phenotype.To better understand the complex regulation of exon 9 splicing, the levels of correctly spliced CFTR transcripts in cultured CFTR-expressing epididymal cells and vas deferens cells were analysed. These data emphasize the role of the T2 allele in CBAVD, and identify the T2 allele as a severe CBAVD disease-causing mutation. Login to comment 97 ABCC7 p.Phe508Cys Previously one group in France were able to detect a novel T3 allele (TG12 T3 ) in a CBAVD patient who carried a [TG11 T7 ; p.Phe508Cys; p.Met470Val] haplotype on the other chromosome (Disset et al., 2005). Login to comment