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

• Hoofdauteurs: Yuqing Su (Auteur), Juntao Zhang (Auteur), Jiahui Gao (Auteur), Guoqing Ding (Auteur), Heng Jiang (Auteur), Yang Liu (Auteur), Yulei Li (Auteur), Guohua Yang (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2024-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...