p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Congenital nystagmus (CN) is an ocular movement disorder manifested as involuntary conjugated binocular oscillation and usually occurs in early infancy. The pathological mechanism underlying CN is still poorly understood. We mapped a novel genetic locus 9q33.1-q34.2 in a larger Chinese family with a...

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Bibliographic Details
Main Authors: Yulei Li, Lei Jiang, Lejin Wang, Cheng Wang, Chunjie Liu, Anyuan Guo, Mugen Liu, Luoying Zhang, Cong Ma, Xianqin Zhang, Shangbang Gao, Jing Yu Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
autosomal dominant congenital nystagmus
STXBP1/MUNC18-1
syntaxin 3B
Caenorhabditis elegans
neurotransmitter release
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2020.591781/full

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https://www.frontiersin.org/articles/10.3389/fcell.2020.591781/full

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