ABCMdb

PMID: 15463898

Salvatore D, Tomaiuolo R, Abate R, Vanacore B, Manieri S, Mirauda MP, Scavone A, Schiavo MV, Castaldo G, Salvatore F
Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.
J Cyst Fibros. 2004 Jun;3(2):135-6., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Asp579Gly Analysis of the whole coding regions of the CFTR gene revealed the rare mutation D579G in homozygosity. Login to comment 13 ABCC7 p.Asp579Gly The analysis revealed the presence of the missense mutation D579G in homozygosity. Login to comment 17 ABCC7 p.Thr338Ile ABCC7 p.Asp110His ABCC7 p.Asp110Glu Indeed, there are several reports about a mild CF phenotype of isolated hypotonic dehydration, associated with specific CFTR mutations, such as T338I, D110E and D110H [6-8]. Login to comment 18 ABCC7 p.Asp579Gly Previously, an adult CF patient from Southern Italy, with pancreatic sufficiency and minor lung involvement, homozygous for the D579G mutation, was described [9]. Login to comment 19 ABCC7 p.Asp579Gly Two other patients, bearing the D579G/ F508del genotype, were described as pancreatic-sufficient [10]. Login to comment 20 ABCC7 p.Asp579Gly Our case report confirms the D579G as a novel mutation associated with pancreatic sufficiency and a mild pulmonary phenotype, although the young age of our patient cannot exclude future variations of the clinical picture. Login to comment 28 ABCC7 p.Asp579Gly Furthermore, our observation increases the evidence that the D579G mutation is typical of Southern Italy, and it might be included in the panel of mutations searched in patients from this area, also by labs from other countries, given the large migratory spreading from Southern Italy in the last two centuries. Login to comment