Cargando…

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

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 familie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Xiao, Ge, Xianglian, Yu, Ying, Zhang, Yilan, Wu, Yaming, Luan, Yin, Sun, Ji, Qu, Jia, Jin, Zi-Bing, Gu, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894538/ https://www.ncbi.nlm.nih.gov/pubmed/24434814 http://dx.doi.org/10.1038/srep03745

Ejemplares similares

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
por: He, Xiang, et al.
Publicado: (2008)

The Role of FRMD7 in Idiopathic Infantile Nystagmus
por: Watkins, Rachel J., et al.
Publicado: (2012)

Identifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus
por: Zhu, Yihua, et al.
Publicado: (2013)

A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family
por: Du, Wei, et al.
Publicado: (2011)

FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus
por: Arshad, Muhammad Waqar, et al.
Publicado: (2023)

A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus
por: Hu, Ying, et al.
Publicado: (2012)

A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family
por: Liu, Zhirong, et al.
Publicado: (2013)

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus
por: Jia, Xiuhua, et al.
Publicado: (2017)

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
por: Li, Ningdong, et al.
Publicado: (2008)

A FRMD7 variant in a Japanese family causes congenital nystagmus
por: Kohmoto, Tomohiro, et al.
Publicado: (2015)

Identification of a novel idiopathic congenital nystagmus-causing missense mutation, p.G296C, in the FRMD7 gene
por: Xiu, Yanghui, et al.
Publicado: (2018)

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
por: Chen, Junjue, et al.
Publicado: (2019)

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
por: Lee, Junwon, et al.
Publicado: (2022)

A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus
por: Choi, Jae-Hwan, et al.
Publicado: (2015)

Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity
por: Yonehara, Keisuke, et al.
Publicado: (2016)

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus
por: Watkins, Rachel J., et al.
Publicado: (2013)

Nystagmus‐related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons
por: Pu, Jiali, et al.
Publicado: (2019)

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)
por: Salman, Ahmed, et al.
Publicado: (2020)

Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
por: Wang, Fengqi, et al.
Publicado: (2019)

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus
por: Hafdaoui, Sara, et al.
Publicado: (2023)

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome
por: Jiang, Lei, et al.
Publicado: (2020)

Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families
por: Oh, Sun-Young, et al.
Publicado: (2007)

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus
por: Zhao, Hui, et al.
Publicado: (2016)

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
por: Han, Ruifang, et al.
Publicado: (2015)

Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts
por: Ge, Xiang-Lian, et al.
Publicado: (2014)

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
por: Zhou, Pingtong, et al.
Publicado: (2008)

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
por: Peng, Yuanyuan, et al.
Publicado: (2009)

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus
por: Hu, Junjie, et al.
Publicado: (2011)

Correlations of FRMD7 gene mutations with ocular oscillations
por: Huang, Lijuan, et al.
Publicado: (2022)

Congenital nystagmus and negative electroretinography
por: Roussi, Mirella, et al.
Publicado: (2011)

Congenital nystagmus and central hypothyroidism
por: Reynaert, Nele, et al.
Publicado: (2015)

Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation
por: Li, Yingzhi, et al.
Publicado: (2011)

Abnormal retinal development associated with FRMD7 mutations
por: Thomas, Mervyn G., et al.
Publicado: (2014)

Benign paroxysmal positional vertigo with congenital nystagmus: A case report
por: Li, Gui-Fang, et al.
Publicado: (2022)

Comparison of non-canonical PAMs for CRISPR/Cas9-mediated DNA cleavage in human cells
por: Zhang, Yilan, et al.
Publicado: (2014)

Nystagmus as a Sign of Labyrinthine Disorders-Three-Dimensional Analysis of Nystagmus-
por: Yagi, Toshiaki
Publicado: (2008)

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus
por: Li, Ningdong, et al.
Publicado: (2011)

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
por: Wang, Xiao-Fang, et al.
Publicado: (2021)

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
por: Yan, Naihong, et al.
Publicado: (2019)

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family
por: Liu, Jing, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ojvns5iulso97kucqoekjmi7nk