A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

Clin Genet. 2018 Aug;94(2):276-277. doi: 10.1111/cge.13255. Epub 2018 Apr 19.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Exome Sequencing
  • Female
  • Genetic Predisposition to Disease*
  • Gonadal Dysgenesis, 46,XX / complications
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Gonadal Dysgenesis, 46,XX / pathology
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Kidney Diseases / complications
  • Kidney Diseases / genetics*
  • Kidney Diseases / pathology
  • Mitochondria / genetics

Substances

  • Cell Cycle Proteins
  • RMND1 protein, human

Supplementary concepts

  • Gonadal dysgenesis XX type deafness