ABCMdb

PMID: 12746094

Kujat A, Alexander H, Glander HJ, Froster UG
Genetic counseling in assisted reproduction: a case of cystic fibrosis identified after two successful intracytoplasmic sperm-injection pregnancies.
Arch Androl. 2003 May-Jun;49(3):165-8., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Arg117His Molecular studies of the ABCC7 gene (cystic fibrosis CFTR-gene) carried out 2 years ago with the InnoLipa reverse hybridization test detected only one mutated allele carrying the R117H mutation. Login to comment 24 ABCC7 p.Arg117His To find out whether both mutations were located on the same allele we investigated both parents of the patient and found the R117H mutation in the DNA of the patient`s father and the CFTR dele2,3 (21 kb) mutation in his mother`s DNA. Login to comment 37 ABCC7 p.Arg117His The mutation R117H found in the patient`s DNA occurs in 0.8% of mutant alleles in CF patients. Login to comment 38 ABCC7 p.Arg117His Three different phenotypes were observed to be associated with the genotype R117H: typical CF, males with CBAVD, and asymptomatic females [6]. Login to comment 39 ABCC7 p.Arg117His The mutation R117H has been previously found in 24 German CBAVD patients [2] in the majority of these cases in the combination with DF508. Login to comment 42 ABCC7 p.Arg117His In further studies a strong correlation between R117H and the chromosomal background has been considered. Login to comment 43 ABCC7 p.Arg117His The R117H mutation and the polyT tract length of 7T has been found, together in a significant higher proportion than other variants, such as 5T in males with CBAVD [4]. Login to comment