SHANK3 mutation in consanguineous schizophrenia family in northwest Algeria - 08/07/17
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Résumé |
Introduction |
Several studies have asserted the existence of a strong and complex genetic component in the determination of psychotic disorders. GWAS studies conducted over the past decade lead to the identification of only a few low effect associations, calling questioning the hypothesis of “common disease – common variants” for a model involving a large number of rare variants.
Aims |
Here, we studied a multigenerational multiplex family with schizophrenia a high rate of consanguinity, located in the northwest of Algeria. This study aims to identify inherited rare variants of schizophrenia using new genetic technologies.
Methods |
This family has received complete clinical (DIGS, DSM-IV criteria), genealogical investigations, CNV analysis using CGH Microarray Kit 244K (Santa Clara, CA) and WES (by GAIIx Illumina/HiSeq 2000) focused in CNV regions, that were performed in the department of genetics in the university hospital of Geneva.
Results |
We identify 11 affected members by psychotic disorders. The main CNVs analysis results found in a schizophrenic member a Del 22q13.33 affecting SHANK3 gene. WES regarding these regions identified a mutation at position 511178000 in SHANK3 gene in all the selected affected relatives.
Discussion |
Several studies have asserted the association of SHANK3 mutations with schizophrenia and autism disorders. This is the first observation of rs511,178,000 in schizophrenia phenotype.
Conclusion |
In total, this highly informative family have identified new rare genetic variant of schizophrenia. The search for this mutation in wider control population in would be useful to validate these data.
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Vol 41 - N° S
P. S595-S596 - avril 2017 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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