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Article

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.

Neuropsychopharmacology reports - 1 Dec 2018

Nakamura Takumi, Jimbo Kotori, Nakajima Kazuo, Tsuboi Takashi, Kato Tadafumi

Abstract excerpt

AIM: We previously performed the first trio-based exome study for bipolar disorder and identified 71 de novo mutations. Among these mutations, the only mutation located at the splice donor site was in UNC13B. We focused on and analyzed the functions of the mutation. METHODS: In order to analyze the functional alterations, due to the mutation, we performed a minigene splicing assay. KEY RESULTS: We found that the...

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Identifiers

PMID: 30117296
DOI: 10.1002/npr2.12027
PMCID: PMC7292303

Genes

UNC13B

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