ABCMdb

PMID: 26002249

Hadj Fredj S, Ouali F, Siala H, Bibi A, Othmani R, Dakhlaoui B, Zouari F, Messaoud T
Prenatal diagnosis of cystic fibrosis: 10-years experience.
Pathol Biol (Paris). 2015 Jun;63(3):126-9. doi: 10.1016/j.patbio.2015.04.002. Epub 2015 May 20., [PubMed]

Sentences

No. Mutations Sentence Comment

77 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Val754Met ABCC7 p.Glu1104* ABCC7 p.Arg785* Ten different CFTR mutations were identified, including F508del (51.28%), E1104X (12.82%), N1303K (8.97%), G542X (8.97%), 711 + 1 G!T (6.41%), W1282X (5.12 %), R785X (1.28 %) and V754M (1.28%). Login to comment 91 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Glu1104* ABCC7 p.Glu1104* ABCC7 p.Glu1104* ABCC7 p.Glu1104* Fetus genotype Number Percentage (%) F508del/- 14 28.57 F508del/F508del 6 12.24 E1104X/- 3 6.12 N1303K/- 3 6.12 E1104X/N1303K 2 4.08 F508del/711 + 1 G!T 1 2.04 E1104X/E1104X 1 2.04 W1282X/W1282X 1 2.04 711 + 1 G!T/711 + 1 G!T 1 2.04 4268 + 2T!G/4268 + 2T!G 1 2.04 G542X/- 1 2.04 -/- 15 30.61 ''-``: absence of mutation. Login to comment 97 ABCC7 p.Glu1104* The second mutation has been identified in association with E1104X mutation in a patient from Southern Tunisia (Zarzis), this leads to a premature stop codon 31 nucleotides downstream the deletion/insertion. Login to comment