ABCC7 p.Glu379*
| ClinVar: |
c.1135G>T
,
p.Glu379*
?
, not provided
c.1135G>A , p.Glu379Lys ? , not provided |
| CF databases: |
c.1135G>A
,
p.Glu379Lys
(CFTR1)
D
, This mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carried the D443Y mutation in trans.
|
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[hide] A Genotypic-Oriented View of CFTR Genetics Highlig... Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229. Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229., [PMID:25910067]
Abstract [show]
Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic challenges persist. We enrolled 610 patients with different forms of CF and studied them from a clinical, biochemical, microbiological and genetic point of view. Overall, there were 125 different mutated alleles (11 with novel mutations and 10 with complex mutations) and 225 genotypes. A strong correlation between mutational patterns at the genotypic level and phenotypic macrocategories emerged. This specificity appears to largely depend on rare and individual mutations, as well as on the varying prevalence of common alleles in different clinical macrocategories. However, 19 genotypes appeared to underlie different clinical forms of the disease. The dissection of the pathway from the CFTR mutated genotype to the clinical phenotype allowed to identify at least two components of the variability usually found in the genotype-phenotype relationship. One component seems to depend on the genetic variation of CFTR, the other component on the cumulative effect of variations in other genes and cellular pathways independent from CFTR. The experimental dissection of the overall biological CFTR pathway appears to be a powerful approach for a better comprehension of the genotype-phenotype relationship. However, a change from an allele-oriented to a genotypic-oriented view of CFTR genetics is mandatory, as well as a better assessment of sources of variability within the CFTR pathway.
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No. Sentence Comment
373 [1117-8A>G;1727G>C;2002C>T] uncertain: found only with an unknown allele in trans 1249-8A>G nd; G576A non CF-causing; R668C non CF-causing 1259insA c.1127_1128insA CF-PI CF-causing p.Gln378AlafsX4 E379X c.1135G>T CF-PI nd p.Glu379* M394R c.1181T>G CF-PI nd p.Met394Arg (TG)11T5 c.
X
ABCC7 p.Glu379* 25910067:373:197
status: NEW