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Genes 2016, 7(11), 102;

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia

Department of Psychiatry, Yuli Branch, Taipei Veterans General Hospital, Hualien 98142, Taiwan
Center for General Education, St. Mary’s Junior College of Medicine, Nursing and Management, Yilan County 26644, Taiwan
Author to whom correspondence should be addressed.
Academic Editor: Xiangning (Sam) Chen
Received: 22 September 2016 / Revised: 14 November 2016 / Accepted: 16 November 2016 / Published: 22 November 2016
(This article belongs to the Special Issue Genetic Mechanism of Psychiatric Disorders)
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A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions. Haploinsufficiency of the TBX1 gene is associated with schizophrenia endophenotype. This study aimed to investigate whether the TBX1 gene is associated with schizophrenia. We searched for mutations in the TBX1 gene in 652 patients with schizophrenia and 567 control subjects using a re-sequencing method and conducted a reporter gene assay. We identified six SNPs and 25 rare mutations with no association with schizophrenia from Taiwan. Notably, we identified two rare schizophrenia-specific mutations (c.-123G>C and c.-11delC) located at 5′ UTR of the TBX1 gene. The reporter gene assay showed that c.-123C significantly decreased promoter activity, while c.-11delC increased promoter activity compared with the wild-type. Our findings suggest that the TBX1 gene is unlikely a major susceptible gene for schizophrenia in an ethnic Chinese population for Taiwan, but a few rare mutations in the TBX1 gene may contribute to the pathogenesis of schizophrenia in some patients. View Full-Text
Keywords: schizophrenia; TBX1; rare mutation; 22q11.2 deletion schizophrenia; TBX1; rare mutation; 22q11.2 deletion

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Ping, L.-Y.; Chuang, Y.-A.; Hsu, S.-H.; Tsai, H.-Y.; Cheng, M.-C. Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia. Genes 2016, 7, 102.

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