Before attributing CPEO and ptosis to the variant m.14819T>G its pathogenicity needs to be established

Published:April 24, 2019DOI:https://doi.org/10.1016/j.jns.2019.04.034
      With interest we read the article by Nomura et al. about a 47yo female with ptosis and chronic progressive external ophthalmoplegia (CPEO) being attributed to a single mtDNA deletion, the mtDNA variant m.14819T>G, or the heterozygous POLG1 variant c.2890C>T [
      • Nomura E.
      • Ohta Y.
      • Tadokoro K.
      • Sato K.
      • Sasaki R.
      • Takahashi Y.
      • Yamashita T.
      • Takemoto M.
      • Hishikawa N.
      • Goto Y.I.
      • Abe K.
      A unique Japanese CPEO family with a novel homozygous m.14819T>G (p. S25A) substitution.
      ]. The latter variant was also found in her brother who only manifested with CPEO without ptosis but not in the mother who manifested with ptosis and CPEO [
      • Nomura E.
      • Ohta Y.
      • Tadokoro K.
      • Sato K.
      • Sasaki R.
      • Takahashi Y.
      • Yamashita T.
      • Takemoto M.
      • Hishikawa N.
      • Goto Y.I.
      • Abe K.
      A unique Japanese CPEO family with a novel homozygous m.14819T>G (p. S25A) substitution.
      ]. The mtDNA variant m.14819T>G was also found in the brother and the mother [
      • Nomura E.
      • Ohta Y.
      • Tadokoro K.
      • Sato K.
      • Sasaki R.
      • Takahashi Y.
      • Yamashita T.
      • Takemoto M.
      • Hishikawa N.
      • Goto Y.I.
      • Abe K.
      A unique Japanese CPEO family with a novel homozygous m.14819T>G (p. S25A) substitution.
      ]. We have the following comments and concerns.

      Keywords

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