Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.

@article{Moteki2015HearingLC,
  title={Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.},
  author={Hideaki Moteki and Hela Azaiez and Kevin T Booth and Mitsuru Hattori and Ai Sato and Yoshihiko Sato and Mitsuo Motobayashi and Christina M. Sloan and Diana L. Kolbe and A. Eliot Shearer and Richard J. H. Smith and Shin-Ichi Usami},
  journal={The Annals of otology, rhinology, and laryngology},
  year={2015},
  volume={124 Suppl 1},
  pages={177S-83S}
}
OBJECTIVES We present a family with a mitochondrial DNA 3243A>G mutation resulting in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss in which a novel mutation in the P2RX2 gene was identified. METHODS One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were… CONTINUE READING