Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy

@article{Celis2015LossOF,
  title={Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy},
  author={Katrina Celis and Scott Shuldiner and Eden V. Haverfield and Joshua Cappell and Rongze Yang and Da-Wei Gong and Wendy K Chung},
  journal={Journal of Inherited Metabolic Disease},
  year={2015},
  volume={38},
  pages={941-948}
}
Intellectual disability is genetically heterogeneous, and it is likely that many of the responsible genes have not yet been identified. We describe three siblings with isolated, severe developmental encephalopathy. After extensive uninformative genetic and metabolic testing, whole exome sequencing identified a homozygous novel variant in glutamic pyruvate transaminase 2 (GPT2) or alanine transaminase 2 (ALT2), c.459 C > G p.Ser153Arg that segregated with developmental encephalopathy in the… CONTINUE READING