Document Detail


Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.
MedLine Citation:
PMID:  16478680     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary expression and pancreatic insufficiency. The sweat test was altered in all three siblings, and all had intestinal occlusion in young age. The whole scanning of CFTR revealed the rare F508del/D614G genotype. The discordance of clinical expression within the same family reinforces the putative role of modifier genes of CF phenotype.
Authors:
Giuseppe Castaldo; Rossella Tomaiuolo; Borghina Vanacore; Pietro Ferrara; Stefania DEL Vecchio; Vincenzo Carnovale; Pasquale Abete; Franco Rengo; Francesco Salvatore
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-02-14
Journal Detail:
Title:  Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society     Volume:  5     ISSN:  1569-1993     ISO Abbreviation:  J. Cyst. Fibros.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-07-24     Completed Date:  2006-12-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101128966     Medline TA:  J Cyst Fibros     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  193-5     Citation Subset:  IM    
Affiliation:
Università del Molise Facoltà di SS MM FF NN Via Mazzini 86170 Isernia Italia. castaldo@dbbm.unina.it <castaldo@dbbm.unina.it>
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Bronchiectasis / genetics*
Cystic Fibrosis / complications,  genetics*,  pathology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Exocrine Pancreatic Insufficiency / genetics*
Genotype
Humans
Intestinal Obstruction / etiology,  genetics
Lung / pathology
Male
Middle Aged
Pedigree
Phenotype
Siblings
Vas Deferens / pathology*
Chemical
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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