Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.2554dupT
Protein Name
p.Tyr852LeufsX44
Exon or Intron
not available
Other Details
This mutation was detected by exon and intron-exon border sequencing. No abnormality was detected by the MLPA method. The mutant sequence was not found in 220 other chromosomes from Argentina CF patients and was found together with a splice mutation, c.2657+5G>A (2789+5G>A).
Contributors and Institutes
Xavier Pepermans
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Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium
Juan Carlos Chacra and Ziomara Reeves
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Instituto del Nino, Rosario, Argentina
Sergio Chialina, Soledad Mellado and Claudia Fornes
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STEM Laboratory, Rosario, Argentina
Liliana Gallardo
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Hospital de Ninos Vilela, Rosario, Argentina
Walter Bordino
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Paediatrics, Facultad de Medecina IUNIR, Rosario, Argentina
Teresinha Leal
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IREC, UCL, Brussels, Belgium
Submitted Phenotype Details
The patient is a 2-year old Argentina girl with no family history of CF. The patient was diagnosed as CF in the first month of life due to positive neonatal screening (IRT=135 ng/ml; positive value>70 ng/ml). Her sweat test is 105 mmol/L chloride and she presents early pulmonary symptoms.
Reference
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The Database was last updated at Apr 25, 2011
