Investigate Patients with Kearns-Sayre Syndrome and Their Mothers Thoroughly

Abstract

With interest we read the article by Sabella-Jimenez et al. about two patients (patient-1, patient-2) with Pearson  syndrome  (PS)  that  evolved  into  chronic  progressive  external  ophthalmoplegia  (CPEO  plus), and lastly Kearns-Sayre syndrome (KSS) with progression of the disease [1]. KSS in patient-1 was due to the single  mtDNA  deletion  NC_012920.1:m.8286_14416del  [1].  KSS  in  patient-2  was  due  to  a  single mtDNA duplication of 7.9kb [1]. Patient-1 deceased at age 10y and patient-2 at age 7y [1]. We have the following comments and concerns