Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications
Yuqing Su,
Juntao Zhang,
Jiahui Gao
et al.
Abstract:Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked ICN, Whole Exome Sequencing (WES) was conducted in two affected families. We identified two frameshift mutations in FRMD7, c.1492dupT/p.(Y498Lfs*15) and c.1616delG/p.(R539Kfs*2). Plasmids harboring the mutated genes and qPCR analysis revealed mRNA stability, evading degradation via the NMD pathway, and corroborated truncated protein production via Western-blot analy… Show more
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