ABCMdb

PMID: 20932506

Scotet V, Dugueperoux I, Audrezet MP, Audebert-Bellanger S, Muller M, Blayau M, Ferec C
Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.
Am J Obstet Gynecol. 2010 Dec;203(6):592.e1-6. Epub 2010 Oct 8., [PubMed]

Sentences

No. Mutations Sentence Comment

87 ABCC7 p.Gln220* birth of a CF child occurred in 1 couple in whom FEB was diagnosed, but in whom the second CFTR mutation (Q220X - p.Gln220X) was not identified at the time of the examination. Login to comment 111 ABCC7 p.Cys491Arg ABCC7 p.Cys491Arg The risk of CF after a diagnosis of FEB has been extensively studied and varies from 0% to 33.3% in the literature.1-11,26,27 As illustrated in Table 2, the prevalence of CF we observed is among the highest reported in the literature, TABLE 1 CFTR mutations identified in CF fetuses and carrier fetuses with FEB Mutation n FEB 289 .............................................................................................................................................................................................................................................. CF-affected fetuses 22 ..................................................................................................................................................................................................................................... F508del/F508dela (p.Phe508del/p.Phe508delb ) 16 ..................................................................................................................................................................................................................................... F508del/1717-1 GϾAa (p.Phe508del/c.1585-1GϾAb ) 1 ..................................................................................................................................................................................................................................... F508del/3121-1 GϾAa (p.Phe508del/c.2989-1GϾAb 1 ..................................................................................................................................................................................................................................... F508del/3129del4a (p.Phe508del/c.2997_3000delb ) 1 ..................................................................................................................................................................................................................................... F508del/4005ϩ1 GϾAa (p.Phe508del/c.3873ϩ1GϾAb ) 1 ..................................................................................................................................................................................................................................... F508del/W1282Xa (p.Phe508del/p.Trp1282Xb ) 1 ..................................................................................................................................................................................................................................... C491R/4005ϩ1 GϾAa (p.Cys491Arg/c.3873ϩ1GϾAb ) 1 .............................................................................................................................................................................................................................................. Login to comment 136 ABCC7 p.Gln220* This happened once in our cohort (in the mid-1990s) in a fetus carrying the Q220X (p.Gln220X) mutation on the second chromosome that did not belong to the panel of mutations systematically screened at that time. Login to comment