ABCMdb

PMID: 19014055

Yalcin E, Ozcelik U, Yilmaz E, Dogru D, Kiper N, Ferec C
Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.
Turk J Pediatr. 2008 Jul-Aug;50(4):383-5., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Asp1152His We report a 16-year-old boy with CF presenting with MI in the neonatal period, but who then showed nonclassic CF phenotype with PS, mild lung involvement and borderline sweat chloride levels. Analysis of the CFTR gene revealed the rare mutation 2183AA-G/D1152H. Login to comment 20 ABCC7 p.Asp1152His Analysis of the CFTR gene revealed 2183AA-G/ D1152H mutations in our patient. Login to comment 27 ABCC7 p.Asp1152His In our patient, analysis of the CFTR gene revealed 2183AA-G/D1152H mutations; this mutation combination was found for the first time. Login to comment 28 ABCC7 p.Asp1152His D1152H mutation is an exon 18 mutation that causes nonclassic CF phenotype even if severe mutation (e.g. delF508) is on the other allele4,5. Login to comment 31 ABCC7 p.Gly1244Glu ABCC7 p.Gly542* These nine patients carried delF508, G542X, G1244E and 2789+5G-A on the other CF allele. Login to comment 35 ABCC7 p.Asp1152His To our knowledge, our patient is the first reported case concerning mild phenotype with 2183AA-G/D1152H mutations. Login to comment 46 ABCC7 p.Asp1152His In conclusion, we present our CF patient having 2183AA-G/D1152H mutations with a history of MI and nonclassic CF phenotype. Login to comment