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The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.

Gi-Sung NamJohn Hoon RimJae Young ChoiHeon Yung GeeJong Rak ChoiSeung-Tae LeeJinsei Jung
Published in: BMC medical genetics (2019)
According to the hearing loss-specific American College of Medical Genetics and Genomics (ACMG) guidelines, we conclude that H1400Y should be disqualified as a cause of genetic hearing loss. True pathogenic variants causing genetic hearing loss should be more deliberately reported in accordance with ACMG guidelines.
Keyphrases
  • hearing loss
  • copy number
  • genome wide
  • clinical practice
  • healthcare
  • dna methylation