Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia.

@article{Gardella2017CompoundHF,
  title={Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia.},
  author={Rita Gardella and Emilio Sacchetti and Andrea Legati and Chiara Magri and Michele Traversa and Massimo Gennarelli},
  journal={Psychiatry research},
  year={2017},
  volume={258},
  pages={
          598-599
        }
}
Reports of associations between some large and rare copy number variations (CNVs) and schizophrenia have considerably enriched the debate on the genetics of schizophrenia. Although CNVs represent plausible risk factors, their presence in unaffected individuals is likely to implicate the involvement of additional genetics and/or environmental factors in the… CONTINUE READING