ABCMdb

PMID: 19208501

Balascakova M, Holubova A, Skalicka V, Zemkova D, Kracmar P, Gonsorcikova L, Camajova J, Piskackova T, Lebl J, Drevinek P, Gregor V, Vavrova V, Votava F, Macek M Jr
Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
J Cyst Fibros. 2009 May;8(3):224-7. Epub 2009 Feb 8., [PubMed]

Sentences

No. Mutations Sentence Comment

44 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys When the IRT was within the range of 75-150 ng/ml respective Guthrie cards were tested for the 5 most common CF-causing mutations occurring in Czech patients with the "classical form" of CF [p.F508del, c. CFTRdele2,3(21kb), p.N1303K, p.G551D, p.R553X] and comprising approximately 84% of all population specific CFTR alleles [11]. Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys When the IRT was within the range of 75-150 ng/ml respective Guthrie cards were tested for the 5 most common CF-causing mutations occurring in Czech patients with the "classical form" of CF [p.F508del, c. CFTRdele2,3(21kb), p.N1303K, p.G551D, p.R553X] and comprising approximately 84% of all population specific CFTR alleles [11]. Login to comment 52 ABCC7 p.Arg117His The diagnosis of CF could not be unambiguously established in one patient bearing the complex allele p.F508del/p.R117H-IVS8 T(7), who had mean sweat chloride concentration of 20.4 mM/L [12]. Login to comment 54 ABCC7 p.Arg117His The diagnosis of CF could not be unambiguously established in one patient bearing the complex allele p.F508del/p.R117H-IVS8 T(7), who had mean sweat chloride concentration of 20.4 mM/L [12]. Login to comment 57 ABCC7 p.Ile336Lys Sweat chloride concentration was positive (75 mM/L) in one newborn with the p.F508del mutation, where subsequent direct sequencing detected the p. I336K mutation [13], absent in the extended panel. Login to comment 60 ABCC7 p.Ile336Lys Sweat chloride concentration was positive (75 mM/L) in one newborn with the p.F508del mutation, where subsequent direct sequencing detected the p. I336K mutation [13], absent in the extended panel. Login to comment