A Tunisian patient with Pearson syndrome harboring the 4.977Â kb common deletion associated to two novel large-scale mitochondrial deletions

► We reported a Tunisian patient with clinical features of Pearson syndrome. ► The detected common 4.977 kb mitochondrial deletion (nt 8483-13459). ► Long-range PCR amplification revealed the presence of two novel mitochondrial deletions. ► The 5.030 kb deletion (8131-13160) was located in 11 bp imperfect direct repeats ► The 5.234 kb deletion (8051-13284) was flanked by 12 bp imperfect direct repeats.