Frequency and Genetic Profile of Compound Heterozygous Friedreich’s Ataxia Patients—the Brazilian Experience

Thiago Mazzo Peluzzo, Luciana Cardoso Bonadia, Amanda Donatti, Miriam Coelho Molck, Laura Bannach Jardim, Wilson Marques Jr, Iscia Teresinha Lopes-Cendes, Marcondes C. França Jr. Cerebellum (2019). doi:10.1007/s12311-019-01055-z

There were 143 unrelated patients (128 families), five of which had a single expanded allele. We identified point mutations in three out of these five (3/128 = 2.34%). Two patients had the c.157delC variant, whereas one individual had the novel variant c.482+1G>T. These results indicate that FXN point mutations are rare, but exist in Brazilian patients with FRDA. This has obvious implications for diagnostic testing and genetic counseling.

Frequency and Genetic Profile of Compound Heterozygous Friedreich’s Ataxia Patients—the Brazilian Experience