ArticleThe Journal of clinical investigation2013
SLITRK6 mutations cause myopia and deafness in humans and mice.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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Who cites it
36 citing papers in PubMed, 67 citations in OpenAlex.
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- Insights into Myopia from Mouse Models.Annual review of vision science · 2024Review
- Comparative genomics sheds new light on the convergent evolution of infrared vision in snakes.Proceedings. Biological sciences · 2024Article
- Multidisciplinary approach to inherited causes of dual sensory impairment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Review
- Slitrk4 is required for the development of inhibitory neurons in the fear memory circuit of the lateral amygdala.Frontiers in molecular neuroscience · 2024Article
- Comparison of Activity and Safety of DSPAα1 and Its N-Glycosylation Mutants.Life (Basel, Switzerland) · 2023Article
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- Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.Frontiers in genetics · 2023Article
- Genome-Wide Population Structure Analysis and Genetic Diversity Detection of Four Chinese Indigenous Duck Breeds from Fujian Province.Animals : an open access journal from MDPI · 2022Article
- Slitrk2 deficiency causes hyperactivity with altered vestibular function and serotonergic dysregulation.iScience · 2022Article
- Developmental control of noradrenergic system by SLITRK1 and its implications in the pathophysiology of neuropsychiatric disorders.Frontiers in molecular neuroscience · 2022Review
- Leucine-Rich Repeats and Transmembrane Domain 2 Controls Protein Sorting in the Striatal Projection System and Its Deficiency Causes Disturbances in Motor Responses and Monoamine Dynamics.Frontiers in molecular neuroscience · 2022Article
- Identification ofBiochemistry and biophysics reports · 2021Article
- Genomic Signatures for Species-Specific Adaptation in Lake Victoria Cichlids Derived from Large-Scale Standing Genetic Variation.Molecular biology and evolution · 2021Article
- The Cause of Hereditary Hearing Loss inGenes · 2021Article
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- Zonisamide promotes survival of human-induced pluripotent stem cell-derived dopaminergic neurons in the striatum of female rats.Journal of neuroscience research · 2020Article
- IMI - Report on Experimental Models of Emmetropization and Myopia.Investigative ophthalmology & visual science · 2019Review
Corrections and comments
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Authors and funding
25 authors at 8 institutions in 6 countries.
Funding
Abstract
Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.