Genetic screening in patients of Meige syndrome and blepharospasm

Objective Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). Up to now, the pathogenic genes of MS and BSP are still unclear. Methods We performed Sanger sequencing of GNAL , TOR1A , TOR2A , THAP1 , and REEP4 exons on 78 patients, including 53 BSP and 25 MS and 96 healthy controls. Results c.845G > C[R282P] of TOR1A , c.629delC[p.Gly210AlafsTer60] of TOR2A , c.1322A > G[N441S] of GNAL , c.446G > A[R149Q], and c.649C > T[R217C] of REEP4 were identified and predicated as deleterious probably damaging variants. Three potential alterations of splicing variants of TOR1A and TOR2A were identified in patients. The frequencies of TOR1A rs1435566780 and THAP1 rs545930392 were higher in patients than in controls. Conclusions TOR1A rs1435566780 (c.*16G > C(G > A)) and THAP1 rs545930392 (c.192G > A[K64K]) may contribute to the etiology of MS and BSP. Other identified rare mutations predicted as deleterious probably damaging need further confirmation. Larger MS and BSP cohorts and functional studies will need to be performed further to elucidate the association between these genes and the diseases.