Thursday, September 6, 2007

DNA diagnosis

Sequence analysis identified a c.7153C>T nucleotide change in one copy of Reuben's CHD7 gene. A premature translation stop at amino acid residue Glutemine 2385 (p Q2385X). The c.7153C>T (p Q2385X) has not been previously reported. It is a unique mutation. The identification of the CHD7 nonsense mutation confirms the diagnosis of CHARGE.

1 comment:

Lisa said...

Kennedy also has an "x" or stop in her mutation R1069x is hers...hard to believe one protein on one gene on one chromosome that stopped growing caused all of this havoc...