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...

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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

Internet

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

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