ABCMdb

PMID: 15704202

Massie J, Clements B
Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group.
Pediatr Pulmonol. 2005 May;39(5):440-6., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gly542* Management of infants with a borderline sweat test after NBS ABBREVIATIONS CF Cystic fibrosis CFTR Cystic fibrosis transmembrane conductance regulator Cl Chloride DNA Deoxyribonucleic acid IRT Immunoreactive trypsinogen MI Meconium ileus Na Sodium NBS Newborn screening NPD Nasal potential difference TABLE 1- Newborn Screening for CF in Australia and New Zealand1 State/country Year screening started Babies screened (to end of 2003) New South Wales 1981 1,940,000 Victoria 1989 913,181 Queensland 1983 878,905 South Australia (including Tasmania and Northern Territory) 1990 407,625 Western Australia 2001 63,000 New Zealand 1981 1,098,329 Total 5,301,040 1 Mutations screened: New South Wales, DF508; Victoria DF508; South Australia (including Tasmania and Northern Territory), DF508, DI507, G551D, G542X, and R553X; Western Australia, DF508, G551D, G542X, and 621 þ 1G ! Login to comment 48 ABCC7 p.Gly551Asp ABCC7 p.Gly542* T; Queensland, DF508, DI507, G551D, G542X, 621 þ 1G ! Login to comment 49 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* T, R553X, N1303K, and R117H; New Zealand, DF508, G551D, and G542X. Login to comment 61 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His In most instances, the mutations are class I, II, or III mutations causing a severely reduced CFTR product or function, and are associated with severe disease.14 Only one state includes the class IV mutation, R117H, that has a range of phenotypes depending on other chromosomal factors (the intron 8 polythymidine tract length).7,15,16 The problem with including this mutation is that infants who are compound heterozygotes with a severe mutation and R117H (e.g., DF508/R117H) may not have CF, but be labeled as such.17 The intron 8 polythymidine sequence, 5T, also has a variable phenotype,18 and is unhelpful to use in a screening program. Login to comment