ABCMdb

PMID: 16837250

Naguib ML, Schrijver I, Gardner P, Pique LM, Doss SS, Abu Zekry MA, Aziz M, Nasr SZ
Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.
J Cyst Fibros. 2007 Apr;6(2):111-6. Epub 2006 Jul 11., [PubMed]

Sentences

No. Mutations Sentence Comment

103 ABCC7 p.Asn1303Lys ABCC7 p.Thr665Ser Table 2 Clinical findings and mutation analysis of the cystic fibrosis patients Patient number Consanguineous marriage Affected sibling Age (y) Sex Clinical findings Sequence analysis Sweat chloride (mmol/L) 3 Y N 1.5 M Jaundice, FTT 1540A>G (M470V)/unidentified 100 10 Y N 1.1 M PULM, GI, FTT 2125A>T (T665S)/unidentified 90 13 Y N 0.2 F PULM, GI, FTT N/A 120 17 Y N 0.5 M PULM, FTT N/A 95 20 Y N 0.7 M PULM, FTT N/A 90 22 Y Y 2.5 F PULM, FTT ƊF508/ƊF508 96 23 N N 0.5 F PULM, FTT 1898+3A>C/4041G>C (N1303K) 97 41 Y Y 0.5 F PULM, GI, FTT 1540A>G (M470V)/unidentified 85 46 Y N 2 M PULM, FTT Unidentified/unidentified 90 55 N Y 0.7 M PULM, GI, FTT ƊF508/unidentified 80 58 Y N 0.6 M PULM, FTT N/A N/A 22/B Ìe; Y Y 7 M PULM, GI, FTT ƊF508/ƊF508 N/A 1540A>G (M470V): a sequence variant which is a common polymorphism in the CFTR gene. Login to comment 112 ABCC7 p.Asn1303Lys The 4041G>C mutation results in an amino acid substitution of an asparagine residue by lysine at position 1303 (N1303K). Login to comment 114 ABCC7 p.Thr665Ser One patient was identified as a carrier of the 2125A>T (T665S) missense mutation in exon 13a. Login to comment