期刊
JOURNAL OF MOLECULAR NEUROSCIENCE
卷 71, 期 9, 页码 1944-1950出版社
SPRINGERNATURE
DOI: 10.1007/s12031-021-01880-0
关键词
SEMA6B; Progressive myoclonic epilepsy; Exome sequencing; Gene curation
资金
- Jiangsu Provincial Key Research and Development Program [BE2018661]
- Fifteenth Batch of Jiangsu Province Funds for Selection and Training of High-Level Talents [WSN-028]
- Suzhou Science and Technology Development Program [SYSD2020122]
This study identified a novel SEMA6B mutation, expanding the mutation spectrum of the gene in different ethnic groups and strengthening the gene-disease relationship between SEMA6B and progressive myoclonic epilepsy-11.
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 retardation 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.
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