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THAP1 gene dosage in patients with primary dystonia by Real-Time PCR

Grant number: 12/16574-3
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): January 01, 2013
Effective date (End): September 30, 2013
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Patrícia Maria de Carvalho Aguiar
Grantee:Paulo Victor Sgobbi de Souza
Home Institution: Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE). Sociedade Beneficente Israelita Brasileira Albert Einstein (SBIBAE). São Paulo , SP, Brazil


Dystonia is a neurological condition characterized by involuntary and sustained muscle contractions that produce abnormal postures and / or repetitive movements. The mixed phenotype dystonia phenotype (DYT6) follows an autosomal dominant pattern with low penetrance usually starting in childhood, adolescence more often compromising the muscles of the upper limbs and cranial-cervical.THAP1 gene mutations have been recently linked to the mixed dystonia phenotype (DYT6). The genehas three exons coding for a 213 amino acids protein involved in the regulation of transcription, apoptosis and control of cell cycle. Over fifty mutations have been identified in THAP1 gene corresponding to missense mutations or nonsense mutations. Until now, most studies for analysis of THAP1 gene mutations used the direct sequencing method, whic is not able to detect large chromosomal rearrangements (deletions and / or insertions). In clinical practice there are patients presenting DYT6 phenotype without identified mutations in THAP1, imposing the doubt if we are facing a situation of allelic heterogeneity, or if these patients have mutations in THAP1 that are not detected by direct sequencing; in this case the gene dosage studies with real-time PCR can help to investigate large chromosomal rearrangements.This project aims to screen THAP1 for gene dosage alterations through real-time PCR in Brazilian patients with primary torsion dystonia.