Mutation Details for c.489+3A>G
|
|
cDNA Name
|
c.489+3A>G
|
|
Exon or Intron
|
intron 4
|
|
Legacy Exon or Intron
|
intron 4
|
|
|
621+3A->G
|
|
Other Details
|
The mutation was detected by DGGE and direct sequencing. 621+3A>G was detected in 4/250CF patients (0.8%), all 4 of Greek origin. Three of the patents had mutation [delta]F508 in trans and one had mutation 1898+1G>T in trans. All four patients are PI.
The mutation was first reported by Ferrie RM, Silver A, Little S, Beards F, Mathew C in 1991 as a polymorphism. This mutation has been identified in one individual presenting at a pilot CF carrier screening program. No experimental evidence as to whether this substitution affects authentic splicing of the gene was available at that time.
|
|
Contributors
|
Tzetis M,
Antoniadi Th,
Kanavakis E
1998-02-02
|
|
Institute
|
St. Sophia's Children's Hospital,
Athens, Greece
|
|
Submitted Phenotype Details
|
The mutation was identified in several patients aged 2-18 years, 4 females and 1 male, all diagnosed in infancy, one diagnosed at birth with meconium ileus, 4 PI and one PS, all with mild respiratory symptoms (FEV1 greater than 73%) and sweat chloride greater than 82%. All have chronic cough and bacterial lung colonization (Pseudomonas Aeruginosa, Staph. Aureus, Klebsiella, Haemophilus). On the other chromosome deltaF508 was found in 3 patients, 1898+1G->T and W1282X in the other 2. (pers. corr. Tzetis and Tzetis et al. 2001)
|
|
Reference
|
Tzetis et al. (NL#70)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
