Article
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.
Blood - 1 Feb 2002
Arredondo-Vega Francisco X, Santisteban Ines, Richard Eva, Bali Pawan, Koleilat Majed, Loubser Michael, Al-Ghonaium Abdulaziz, Al-Helali Mariam, Hershfield Michael S
Abstract excerpt
Four patients from 3 Saudi Arabian families had delayed onset of immune deficiency due to homozygosity for a novel intronic mutation, g.31701T>A, in the last splice acceptor site of the adenosine deaminase (ADA) gene. Aberrant splicing mutated the last 4 ADA amino acids and added a 43-residue "tail" that rendered the protein unstable. Mutant complementary DNA (cDNA) expressed in Escherichia coli yielded 1% of the...
Topics
- Adenosine Deaminase
- Adolescent
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Genes, Suppressor
- Genotype
- Humans
- Infant
- Male
- Mosaicism