ABCMdb

PMID: 21388895

Baker MW, Groose M, Hoffman G, Rock M, Levy H, Farrell PM
Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.
J Cyst Fibros. 2011 Jul;10(4):278-81. Epub 2011 Mar 8., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Gly542* In 6 non-Caucasian cases (three African American, two Native American and one Hispanic), five had at least one F508del allele, and one was compound heterozygote of G542X/1812-1 GNA. There were 8 screening false negative cases, including 5 in period 1, and 3 in period 2. Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg347Pro Year Mutation 1 Mutation 2 IRTa Age at diagnosis Sweat test results (mmol/L)b Cause of false negative 1995 p. R553X Unknown 53 (56) 4 months old 94 IRT below the cut-off 1996 p. R553X p. R1161X 64 (56) 6 weeks old 109 F508del alone as the 2nd tier 1997 p. R347P Unknown 82 (56) 7 weeks old 108 F508del alone as the 2nd tier 2000 3007delG Unknown 99 (64) 9 months old 110 Rare mutations 2001 Unknown Unknown 44 (66) 7 years old 59 IRT below the cut-off 2002 p. G551D p. Q1291Hc 53 (64) 4 years old 77 IRT below the cut-off 2003 F508del F508del 45 (51) 1 year old 121 IRT below the cut-off 2004 p. R170Hc Unknown 13 (62) 3 years old 66 IRT below the cut-off a IRT was reported as ng/mL. Login to comment 73 ABCC7 p.Arg117His Nevertheless, an important issue in decisions regarding CFTR mutation panels relates to the clinical consequences of mutant alleles, as has been pointed out for R117H [22]. Login to comment 75 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr CFTR mutationa Proportion of allele Frequency of allele (%) Cumulative detection (%)b F508del 137/214 64.02 92.52 3849+10KbCNT 6/214 2.80 92.52c G542X 5/214 2.34 94.39 N1303K 4/214 1.87 98.13 R117H 4/214 1.87 99.07 R553X 3/214 1.40 99.07 1717-1GNA 2/214 0.93 99.07 G551D 1/214 0.47 100 R347P 1/214 0.47 100 A455E 1/214 0.47 100 W1282X 1/214 0.47 100 621+1GNT 1/214 0.47 100 a The other 11 mutations in ACMG 23 mutation panel are G85E, 711+1GNT, R334W, I507del, R560T, 1898+1GNA, 2184delA, 2789+5GNA, 3120+1GNA, R1162X and 3659delC. Login to comment