PMID: 16478680

Castaldo G, Tomaiuolo R, Vanacore B, Ferrara P, DEL Vecchio S, Carnovale V, Abete P, Rengo F, Salvatore F
Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.
J Cyst Fibros. 2006 Aug;5(3):193-5. Epub 2006 Feb 14., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:3:53
status: NEW
view ABCC7 p.Asp614Gly details
 The whole scanning of CFTR revealed the rare F508del/D614G genotype. Login to comment 24 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:24:131
status: NEW
view ABCC7 p.Asp614Gly details
 The gene sequencing scanning of the whole coding region of the CFTR gene in the three siblings revealed the second mutation, i.e., D614G. Login to comment 25 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:25:36
status: NEW
view ABCC7 p.Asp614Gly details
 Thus, the CFTR genotype was F508del/D614G. Login to comment 55 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:55:47
status: NEW
view ABCC7 p.Asp614Gly details
 Indeed, the three siblings carried the F508del/D614G genotype. Login to comment 56 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:56:0
status: NEW
view ABCC7 p.Asp614Gly details
 D614G [5,6] is a rare mutation, not included in commercial kits or in home-made panels [7]. Login to comment 58 ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 16478680:58:4
status: NEW
view ABCC7 p.Asp614Gly details
 The D614G mutation has been identified in atypical CF patients with idiopathic pancreatitis [5,6]. Login to comment