Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

@article{Pierce2013MutationsIL,
  title={Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.},
  author={Sarah B Pierce and Ksenija Gersak and Rachel Michaelson-Cohen and Tom A Walsh and Ming Kai Lee and Daniel Malach and Rachel E. Klevit and M. -T. King and Ephrat Levy-Lahad},
  journal={American journal of human genetics},
  year={2013},
  volume={92 4},
  pages={614-20}
}
The genetic causes of premature ovarian failure (POF) are highly heterogeneous, and causative mutations have been identified in more than ten genes so far. In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C>T (p… CONTINUE READING
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