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

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

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...

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Bibliographic Details
Main Authors: Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li, Guohua Yang
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Medical Genomics
Subjects:
Congenital nystagmus
FRMD7
Novel mutation
Function validation, X-linked nystagmus
Online Access:https://doi.org/10.1186/s12920-024-01817-7

Internet

https://doi.org/10.1186/s12920-024-01817-7

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