Phylogenetic analysis of mitochondrial DNA in a patient with Kearns–Sayre syndrome containing a novel 7629-bp deletion

Abstract

Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns–Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9–10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.