scholarly journals The true panel of cystic fibrosis mutations in the Sicilian population

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Sandrine Chamayou ◽  
Maria Sicali ◽  
Debora Lombardo ◽  
Elena Maglia ◽  
Annalisa Liprino ◽  
...  
2019 ◽  
Author(s):  
sandrine chamayou ◽  
Maria SICALI ◽  
Debora LOMBARDO ◽  
Elena MAGLIA ◽  
Annalisa LIPRINO ◽  
...  

Abstract Background: the aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. Methods: a longitudinal CFTR screening of 1,279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient’s blood. Results: one patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. Conclusions: the risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.


2019 ◽  
Author(s):  
sandrine chamayou ◽  
Maria SICALI ◽  
Debora LOMBARDO ◽  
Elena MAGLIA ◽  
Annalisa LIPRINO ◽  
...  

Abstract Background: the aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. Methods: a longitudinal CFTR screening of 1,279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient ‘blood. Results: one patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. Conclusions: the risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the real panel of mutations in a specific population and helps better to understand the true risk of having an affected child.


JAMA ◽  
1966 ◽  
Vol 195 (12) ◽  
pp. 993-1000 ◽  
Author(s):  
R. J. Grand
Keyword(s):  

Author(s):  
J. V. Briggman ◽  
J. Bigelow ◽  
H. Bank ◽  
S. S. Spicer

The prevalence of strands shown by freeze-fracture in the zonula occludens of junctional complexes is thought to correspond closely with the transepi-thelial electrical resistance and with the tightness of the junction and its obstruction to paracellular flow.1 The complexity of the network of junc¬tional complex strands does not appear invariably related to the degree of tightness of the junction, however, as rabbit ileal junctions have a complex network of strands and are permeable to lanthanum. In human eccrine sweat glands the extent of paracellular relative to transcellular flow remains unknown, both for secretion of the isotonic precursor fluid by the coil and for resorption of a hypertonic solution by the duct. The studies reported here undertook, therefore, to determine with the freeze-fracture technique the complexity of the network of ridges in the junctional complexes between cells in the secretory coil and the sweat ducts. Glands from a patient with cystic fibrosis were also examined because an alteration in junctional strands could underlie the decreased Na+ resorption by sweat ducts in this disease. Freeze-fracture replicas were prepared by standard procedures on isolated coil and duct segments of human sweat glands. Junctional complexes between clear cells, between dark cells and between clear and dark cells on the main lumen, and between clear cells on intercellular canaliculi of the coil con¬tained abundant anastomosing closely spaced strands averaging 6.4 + 0.7 (mean + SE) and 9.0 +0.5 (Fig. 1) per complex, respectively. Thus, the junctions in the intercellular canaliculi of the coil appeared comparable in complexity to those of tight epithlia. Occasional junctions exhibited, in addition, 2 to 5 widely spaced anastomosing strands in a very close network basal to the compact network. The fewer junctional complexes observed thus far between the superficial duct cells consisted on the average of 6 strands arranged in a close network and 1 to 4 underlying strands that lay widely separated from one another (Fig. 2). The duct epitelium would, thus, be judged slightly more "leaky" than the coil. Infrequent junctional complexes observed to date in the secretory coil segment of a cystic fibrosis specimen disclosed rela¬tively few closely crowded strands.


1999 ◽  
Vol 37 (4) ◽  
pp. 291-293 ◽  
Author(s):  
B. Cimon ◽  
J. Carrere ◽  
J. P. Chazalette ◽  
J. F. Vinatier ◽  
D. Chabasse ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A137-A137
Author(s):  
D CHILDS ◽  
D CROMBIE ◽  
V PRATHA ◽  
Z SELLERS ◽  
D HOGAN ◽  
...  

2005 ◽  
Vol 39 (8) ◽  
pp. 43
Author(s):  
DAMIAN MCNAMARA
Keyword(s):  

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