ABCMdb

PMID: 9565413

Parad RB
Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement.
Pediatrics. 1998 May;101(5):851-5., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg560Thr The brushes were then discarded and 60 ␮L 1 M Tris, pH 8.0, was added to the tubes.7 CFTR mutation analysis was performed for 12 mutations (⌬F508, G551D, G542X, 621ϩ1G3T, ⌬I507, 1717-1G3A, R117H, N1303K, W1282X, R560T, R553X, and 3849ϩ10kb C3T). Login to comment 107 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* Genotypes and Sweat Chloride Confirmation by Diagnostic Category Diagnostic Category Number of Patients (%) Primary SC Before Genotype Genotype Confirmatory SC After Genotyping (mEq/L) Affected 6 (21) 1 inadequate volume 2 ⌬F508/⌬F508 2 ND* 2 G542X/W1282X 2 ND* 1 ⌬F508/N Ն60 1 W1282X/W1282X Ն60 Unaffected 19 (68) Confirmed (SC Ͻ40) 1 inadequate volume 9 N/N 9 Ͻ40 Presumed (no SC*) 10 N/N 10 ND* Unknown (indeterminate) 3 (11) 3 Ն 40, Ͻ60 mEq/L 3 N/N 3 ND* Total 28 (100) * ND, not done. Login to comment 110 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* Genotype GI* 25 (89) Newborn bowel obstruction Meconium plug 10 N/N Meconium ileus 1 ⌬F508/⌬F508 1 W1282X/W1282X 3 N/N Atresia or other obstruction 4 N/N In utero dilated bowel 2 ⌬F508/G542X In utero abdominal calcification 1 N/N Neonatal idiopathic cholestasis 1 N/N Failure to thrive 1 N/N Respiratory 3 (11) CLD ϩ P aeruginosa in trachea 1 N/N Chronic cough 1 N/N Bronchiolitis 1 ⌬F508/⌬F508 Total 28 (100) * Secondary reasons: 4/25 positive family history, 3/25 CLD, 3/22 in utero abdominal abnormality. Login to comment 142 ABCC7 p.Trp1282* ABCC7 p.Gly542* Genotype Ͻ2 kg Premature or intrauterine growth restriction 14 (50) 2 Transient in utero dilated bowel (twins), affected sibling 2 G542X/W1282X* 1 In utero abdominal calcifications 1 N/N 10 Meconium plug (3 with CLD, 1 in utero dilated bowel) 10 N/N 1 CLD/P aeruginosa in tracheal aspirate 1 N/N Ͼ2 kg Inadequate sweat amount or inconclusive SC 5 (18) 1 Meconium ileus, affected sibling 1 ⌬F508/⌬F508* 1 Scrotal swelling, in utero abdominal calcifications 1 N/N 1 Chronic cough 1 N/N 1 Affected relative 1 N/N 1 Failure to thrive, affected uncle 1 N/N Sweat lab inaccessible: 9 (32) 1 Bronchiolitis 1 ⌬F508/⌬F508* Patient intensive care unit- bound or no laboratory in hospital 8 Bowel obstruction 5 Meconium ileus 1 ⌬F508/N* 1 W1282X/W1282X* 3 N/N 3 Small bowel atresia 3 N/N Total 28 (100) * Affectd. Login to comment