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Article

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.

BMC medical genomics - 26 Jan 2024

Su Yuqing, Zhang Juntao, Gao Jiahui, Ding Guoqing, Jiang Heng, Liu Yang, Li Yulei, Yang Guohua

Abstract excerpt

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...

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Identifiers

PMID: 38279119
DOI: 10.1186/s12920-024-01817-7
PMCID: PMC10811807

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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