Mutation Details for c.330C>A
|
|
cDNA Name
|
c.330C>A
|
|
Protein Name
|
p.Asp110Glu
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
D110E
|
|
Other Details
|
This mutation was detected by DGGE analysis followed by direct sequencing in two CF infants, a girl carrying [delta]F508 in the other chromosome and a boy carrying G542X in the other chromosome, both of Southern Italian origin (Sicilia region). It was never found in other 800 Italian CF chromosomes and in 100 control chromosomes from Italian population.
The girl was diagnosed because of positive neonatal screening (persistent neonatal hypertrypsinemia), sweat chloride was 42, 57, and 68 mEq/l on repeated tests. Delayed meconium emission. No respiratory symptoms, pancreatic sufficiency and normal growth at 6 months.
The boy presented at 6 months because of metabolic alkalemic diselectrolitemia and bronchiolitis. Neonatal screening was negative. Sweat chloride was 80, 70, 59 and 88 mEq/l on repeated occasions. At 2.5yrs, he is pancreatic sufficient, his growth is in the normal range and he presents no respiratory problems.
This mutation was also reported by Aquino et al. (22/02/2000):
It abolishes a Scrf I site.
This substitution involves a quite conserved residue among species (N110 in the squale), in an intracellular loop. It doesn't affect the charge of the CFTR protein. It was found in an Italian CF patient with pancreatic sufficiency and bearing [delta]F508 on the other chromosome. No other mutation was found after analysis of 14 exons. The deleterious effect of D110E remains to be demonstrated.
|
|
Contributors
|
Seia M,
Padoan R,
Cantù A,
Giunta A
1999-09-23
|
|
Institute
|
Lab. Genetica Molecolare,
Centro Fibrosi Cistica,
ICP e Università degli Studi,
Italy
|
|
Submitted Phenotype Details
|
Seia et all contr. to CFMD
Padoan et all 2002
-references for all
3 patients
One homozygous, diagnosed at birth, PS, no lung disease, sweat chloride 40-53 mEq/l
One female, 6 mths old,diagnosed at birth with late meconium emission, PS, no lung disease, sweat chloride 42-68mEq/l. DelF508 on the other allele.
One male, 2.5 yrs, diagnosed at 6 mths, presented with bronchiolitis at 6 mths, PS, no lung disease, sweat chloride 88mEq/l. G542x on the other allele.
|
|
Reference
|
Seia et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
