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

Rita Gardella, Emilio Sacchetti, Andrea Legati, Chiara Magri, Michele Traversa, Massimo Gennarelli

Research output: Contribution to journalArticle


We identified a potential damaging variant in the FSTL5 gene of a schizophrenia patient.
The patient was also a carrier of a CNV deleting almost the whole FSTL5 gene.
Our findings are consistent with the double-hit hypothesis of schizophrenia.
FSTL5 may be a candidate gene in schizophrenia.
Original languageEnglish
JournalPsychiatry Research
Publication statusE-pub ahead of print - Oct 29 2016


ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

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