Ontology highlight
ABSTRACT:
SUBMITTER: Zhang X
PROVIDER: S-EPMC3894538 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Zhang Xiao X Ge Xianglian X Yu Ying Y Zhang Yilan Y Wu Yaming Y Luan Yin Y Sun Ji J Qu Jia J Jin Zi-Bing ZB Gu Feng F
Scientific reports 20140117
Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four families. Mutation analysis led to identification of three novel mutations, p.S260R, p.Q487X, and p.V549Y fsX554, in FRMD7 in three of the recruited families. Results from structural modeling indicated that ...[more]