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

doi:10.1016/j.psychres.2016.10.057

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

Centro San Giovanni di Dio - Fatebenefratelli

Research output: Contribution to journal › Article › peer-review

Abstract

Highlights
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 language	English
Journal	Psychiatry Research
DOIs	https://doi.org/10.1016/j.psychres.2016.10.057
Publication status	E-pub ahead of print - Oct 29 2016

ASJC Scopus subject areas

Psychiatry and Mental health
Biological Psychiatry

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Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia. / Gardella, Rita; Sacchetti, Emilio; Legati, Andrea; Magri, Chiara; Traversa, Michele; Gennarelli, Massimo.

In: Psychiatry Research, 29.10.2016.

Research output: Contribution to journal › Article › peer-review

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