PEARSON SYNDROME

MITOCHONDRIAL DNA DELETION ANALYSIS

Pearson syndrome is caused by large deletions of mitochondrial DNA. Patients with Pearson syndrome manifest bone marrow and pancreatic dysfunction during infancy. Patients who survive infancy usually develop Kearns-Sayre syndrome or multisystemic disorders at a later age. The mutant mitochondrial DNA is usually present in blood and muscle. However, the deletion molecules in blood tend to be preferentially eliminated as the patients grow older and the hematopoietic disorders resolve.

Reasons for Referral:

To confirm the diagnosis of Pearson syndrome.
To confirm the diagnosis of multisystemic mitochondrial DNA deletion syndrome.
Family history
Asymptomatic carrier testing if a specific mutation in the family is known

Testing Methodology:

Please refer to Mitochondrial DNA Screen (Point Mutations and Deletions)