Cargando…

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus

PURPOSE: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN). METHODS: Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically unsolved cases of suspected FIN. Pre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Junwon, Jeong, Han, Won, Dongju, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak, Byeon, Suk Ho, Kuht, Helen J., Thomas, Mervyn G., Han, Jinu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251792/ https://www.ncbi.nlm.nih.gov/pubmed/35762937 http://dx.doi.org/10.1167/tvst.11.6.25

Ejemplares similares

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

TUBB3 M323V Syndrome Presents with Infantile Nystagmus
por: Jin, Soohwa, et al.
Publicado: (2021)

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

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

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

Discordant phenotypes in twins with infantile nystagmus
por: Aamir, Abdullah, et al.
Publicado: (2021)

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

In Silico identification of a common mobile element insertion in exon 4 of RP1
por: Won, Dongju, et al.
Publicado: (2021)

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
por: Chen, Junjue, 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)

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

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)

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

Biased exon/intron distribution of cryptic and de novo 3′ splice sites
por: Královičová, Jana, et al.
Publicado: (2005)

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
por: Surl, Dongheon, et al.
Publicado: (2020)

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

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

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus
por: Zhang, Xiao, et al.
Publicado: (2014)

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

Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
por: Yoshimoto, Satomi, et al.
Publicado: (2016)

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

Infantile nystagmus: an optometrist’s perspective
por: Zahidi, Asma AA, et al.
Publicado: (2017)

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

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

An important class of intron retention events in human erythroblasts is regulated by cryptic exons proposed to function as splicing decoys
por: Parra, Marilyn, et al.
Publicado: (2018)

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
por: Moon, Dabin, et al.
Publicado: (2021)

Intronic L1 Retrotransposons and Nested Genes Cause Transcriptional Interference by Inducing Intron Retention, Exonization and Cryptic Polyadenylation
por: Kaer, Kristel, et al.
Publicado: (2011)

Velocity Discrimination in Infantile Nystagmus Syndrome
por: Dai, Bing, et al.
Publicado: (2021)

A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient
por: Conboy, John G.
Publicado: (2021)

Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study
por: Rufai, Sohaib R., et al.
Publicado: (2020)

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

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

An automated segmentation approach to calibrating infantile nystagmus waveforms
por: Dunn, Matt J., et al.
Publicado: (2019)

Evolution of Exon-Intron Structure and Alternative Splicing
por: Koralewski, Tomasz E., et al.
Publicado: (2011)

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus
por: Lin, Ting-Feng, et al.
Publicado: (2018)

Abnormal Head Position in Infantile Nystagmus Syndrome
por: Noval, Susana, et al.
Publicado: (2012)

The Diagnosis and Treatment of Infantile Nystagmus Syndrome (INS)
por: Khanna, Sangeeta, et al.
Publicado: (2006)

Perception of Coherent Motion in Infantile Nystagmus Syndrome
por: Dai, Bing, et al.
Publicado: (2022)

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
por: Fadaie, Zeinab, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_39solfc098gnd12p8njtuva5e6