PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus

Title PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus
Creator Yuri Seo; Tae Young Kim; Dongju Won; Jong Rak Choi; Go Hun Seo; Seung-Tae Lee; Jinu Han
Affiliation Department of Ophthalmology (YS), Institute of Vision Research, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea; Department of Ophthalmology (TYK, JH), Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea; Department of Laboratory Medicine (DW, JRC, S-TL), Yonsei University College of Medicine, Seoul, South Korea; and Division of Medical Genetics (GHS), 3billion Inc, Seoul, South Korea
Subject Humans; Infant; Nystagmus, Pathologic / diagnosis; Nystagmus, Pathologic / etiology; Optic Atrophy / diagnosis; Protein Tyrosine Phosphatases, Non-Receptor; Spasms, Infantile
Date 2023-12
Date Digital 2023-12
References 1. Kim J, Lee JE, Heynen-Genel S, Suyama E, Ono K, Lee K, Ideker T, Aza-Blanc P, Gleeson JG. Functional genomic screen for modulators of ciliogenesis and cilium length. Nature. 2010;464:1048-1051. 2. Gingras MC, Kharitidi D, Chénard V, Uetani N, Bouchard M, Tremblay ML, Pause A. Expression analysis and essential role of the putative tyrosine phosphatase his-domain-containing protein tyrosine phosphatase (HD-PTP). Int J Dev Biol. 2009;53:1069-1074. 3. Le D, Lim S, Min KW, Park JW, Kim Y, Ha T, Moon KH, Wagner KU, Kim JW. Tsg101 is necessary for the establishment and maintenance of mouse retinal pigment epithelial cell polarity. Mol Cell. 2021;44:168-178. 4. Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. Eur J Hum Genet. 2020;28:76-87. 5. Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, Baple EL, Crosby AH. Final exon frameshift biallelic PTPN23 variants are associated with microcephalic complex hereditary spastic paraplegia. Brain Sci. 2021;11:614.
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2023, Volume 43, Issue 4
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6m49fh7
Setname ehsl_novel_jno
ID 2635286
Reference URL https://collections.lib.utah.edu/ark:/87278/s6m49fh7