A de novo SEMA6B variant in a Chinese patient with progressive myoclonic epilepsy-11 and review of the literature [post]

Qian Li, Min Liu, Dan-ping Huang, Tao Li, Jing Huang, Ping Jiang, Wei-hao Ling, Xuqin Chen
2021 unpublished
Progressive myoclonic epilepsy is a group of neurodegenerative diseases with complex clinical and genetic heterogeneity, which is associated with spontaneous or action-induced myoclonus and progressive neurodegeneration. Since 2020, 4 families with progressive myoclonic epilepsy-11 [OMIM#618876] have been reported with a very limited spectrum of SEMA6B pathogenic variants. In our study, whole-exome sequencing was used in a proband from a nonconsanguineous Chinese family presenting with growth
more » ... tardation and recurrent atonic seizures. A deletion mutation (c.1960_1978del, p.Leu654Argfs*25) in the last exon of SEMA6B was detected, which is a de Novo variant and pathogenic. The new genetic evidence we reported here strengthened the gene-disease relationship, and the gene curation level between SEMA6B and progressive myoclonic epilepsy-11 became "strong" following the ClinGen SOP. Therefore, the results of this study broaden the mutation spectrum of SEMA6B in different ethnic groups and strengthen the gene-disease relationship between SEMA6B and progressive myoclonic epilepsy-11.
doi:10.21203/rs.3.rs-306316/v1 fatcat:qqr5gcxlfzdrdjx5mekhwcgrea