Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC7672047 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Li Yulei Y Jiang Lei L Wang Lejin L Wang Cheng C Liu Chunjie C Guo Anyuan A Liu Mugen M Zhang Luoying L Ma Cong C Zhang Xianqin X Gao Shangbang S Liu Jing Yu JY
Frontiers in cell and developmental biology 20201104
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 autosomal dominant CN and identified a variant (c.47A>G/p.His16Arg) of <i>STXBP1</i> by exome sequencing, which fully co-segregated with the nystagmus phenotype in this family and was absent in 571 hea ...[more]