Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

ABSTRACT: We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. Linkage analysis was performed and the disease locus narrowed to chromosome 19p13.3. Fourteen candidate genes were screened by conventional Sanger sequencing and in one, LMNB2, a novel homozygous missense mutation was identified that segregated with the PME in the family. Whole exome sequencing excluded other likely pathogenic coding variants in the linked interval. The p.His157Tyr mutation is located in an evolutionarily highly conserved region of the alpha-helical rod of the lamin B2 prot

SUBMITTER: Damiano JA 

PROVIDER: S-EPMC6281347 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature