ArticleHuman molecular genetics2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 60 citations in OpenAlex.
- NontruncatingOphthalmology science · 2026Article
- Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Investigative ophthalmology & visual science · 2026Review
- Article
- Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene.Heliyon · 2024Article
- FERM domain-containing proteins are active components of the cell nucleus.Life science alliance · 2024Review
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.BMC medical genomics · 2023Article
- Article
- Correlations of FRMD7 gene mutations with ocular oscillations.Scientific reports · 2022Article
- Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Translational vision science & technology · 2022Article
- The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model.Cells · 2022Review
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
- Clinical utility gene card for FRMD7-related infantile nystagmus.European journal of human genetics : EJHG · 2021Article
- Development of the vertebrate retinal direction-selective circuit.Developmental biology · 2021Review
- Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.Frontiers in cell and developmental biology · 2021Article
- Article
- FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.Investigative ophthalmology & visual science · 2020Article
- Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.Journal of clinical laboratory analysis · 2020Article
- Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons.Brain and behavior · 2019Article
- Evaluation of Metabolite Changes in the Occipital Cortex of Patients with Idiopathic Infantile Nystagmus or Bilateral Ametropic Amblyopia by Magnetic Resonance Spectroscopy.Korean journal of ophthalmology : KJO · 2019Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in the FRMD7 gene that encodes a FERM domain protein. FRMD7 is expressed in the brain and knock-down studies suggest it plays a role in neurite extension through modulation of the actin cytoskeleton, yet little is known about its precise molecular function and the effects of IIN mutations. Here, we studied four IIN-associated missense mutants and found them to have diverse effects on FRMD7 expression and cytoplasmic localization. The C271Y mutant accumulates in the nucleus, possibly due to disruption of a nuclear export sequence located downstream of the FERM-adjacent domain. While overexpression of wild-type FRMD7 promotes neurite outgrowth, mutants reduce this effect to differing degrees and the nuclear localizing C271Y mutant acts in a dominant-negative manner to inhibit neurite formation. To gain insight into FRMD7 molecular function, we used an IP-MS approach and identified the multi-domain plasma membrane scaffolding protein, CASK, as a FRMD7 interactor. Importantly, CASK promotes FRMD7 co-localization at the plasma membrane, where it enhances CASK-induced neurite length, whereas IIN-associated FRMD7 mutations impair all of these features. Mutations in CASK cause X-linked mental retardation. Patients with C-terminal CASK mutations also present with nystagmus and, strikingly, we show that these mutations specifically disrupt interaction with FRMD7. Together, our data strongly support a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus.
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