ABCMdb

PMID: 20512161

de Becdelievre A, Costa C, LeFloch A, Legendre M, Jouannic JM, Vigneron J, Bresson JL, Gobin S, Martin J, Goossens M, Girodon E
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.
Eur J Hum Genet. 2010 Oct;18(10):1166-9. Epub 2010 May 26., [PubMed]

Sentences

No. Mutations Sentence Comment

40 ABCC7 p.Trp1282* Screening for frequent mutations in another laboratory identified W1282X in the father and the fetus. Login to comment 48 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg74Trp ABCC7 p.Gln1352His Table 1 Reasons of screening for large rearrangements In group 1 (first-hand referrals): 17/450 First step of the study: one CF mutation identified (n¼8) F508del (n¼6), 394delTT (n¼1), Q1352H (n¼1) Abnormal AF-DE (n¼4) Consanguinity in the couple (n¼1) Very suggestive ultrasound signsa (n¼4) In group 2 (second-hand referrals): 53/219 First step of the study: one CF mutation identified in another laboratory (n¼45) F508del (n¼36), N1303K (n¼3), G542X (n¼2), G551D, R553X, W1282X, 3849+10kbC4T (n¼1 for each) Abnormal AF-DE (n¼1) Consanguinity in the couple and presence of the [R74W;V201M;D1270N] complex allele (n¼1) Very suggestive ultrasound signsa (n¼6) aVery suggestive ultrasound signs mean that several abnormal signs were associated and/or clinicians insisted on a comprehensive study of the CFTR gene. Login to comment 50 ABCC7 p.Trp1282* Table 2 Phenotype and genotype data in fetuses carrying at least one large CFTR deletion Ultrasound findings Case Year of the study Gestational age (weeks) HB LD GB Ascites Other Amniotic fluid digestive enzymes Outcome Allele 1a Allele 2 (short name) Geographic origin for the deletion 1 1998 20 + À À À À Normal Birth, CF dele19 dele19 Turkey 2 2004 20 + + NV À À Abnormally low TOP W1282X dele2_6b Denmark 3 2005 30 + À Sludge + À Abnormally high TOP F508del dele22_23 France 4 2008 25 + + NV À À NP Birth, CF 2347delG dele14b_15 Brittany/Germany 5 2009 32 À À À + Polyhydramnios NP Birth, CF F508del dele6a_6b Portugal GB: gallbladder; HB: hyperechogenic bowel; LD: loop dilatation; NP: not performed; NV: not visualized; TOP: termination of pregnancy. Login to comment 72 ABCC7 p.Trp1282* Table 3 Genotype data of the deletions found in CF fetuses Case Allele 1a Allele 2 a Short name of the deletion Motif sequence at the breakpoints 1 3601-2880_3849+2150del5279 bpb (c.3469-2880_3717+2150del5279 bp) 3601-2880_3849+2150del5279 bpb (c.3469-2880_3717+2150del5279bp) dele19 AACT (direct) 2 W1282X 185+2909_1002-1620del55429ins17bpc (c.53+2909_870-1620del55429ins17 bp) dele2_6b CAGCTCTAGTT (direct) 3 F508del IVS21-78_IVS23+577del1532 bp (c.3964-78_4242+577del1532 bp) dele22_23 ACT (direct) 4 2347delG 2751+1355_3040+243del7613bp (c.2619+1355_2908+243del7613 bp) dele14b_15 GTGGG-CTG (5') and GTGGG-CTG (3') (direct) 5 F508del 746_1002-1547del3273bp (c.614_870-1547del3273 bp) dele6a_6b TCCTTTG (inverted) aMutation names were given according to the international consortium mutation database (www.genet.sickkids.on.ca/cftr). Login to comment