A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Autor: Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD

Publikováno v: Radiology Case Reports, Vol 18, Iss 3, Pp 1217-1220 (2023)

Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently

Externí odkaz: https://doaj.org/article/b22a1a9a07024e1ead5eaf1d2c102d44

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Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

Autor: Emma M. Jenkinson, Andrew P. Badrock, Denis L. J. Lafontaine, Gillian I. Rice, Raymond T. O'Keefe, Siobhan Crilly, Paul R. Kasher, Ludivine Wacheul, Carolina Uggenti, Yanick J. Crow

Publikováno v: Am J Hum Genet
Badrock, A, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E, Rice, G, Kasher, P, Lafontaine, D, Crow, Y & O'Keefe, R 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
Badrock, A P, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E M, Rice, G I, Kasher, P R, Lafontaine, D L J, Crow, Y J & O'Keefe, R T 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
American journal of human genetics, 106 (5

How mutations in the non-coding U8 snoRNA cause the neurological disorder leukoencephalopathy with calcifications and cysts (LCC) is poorly understood. Here, we report the generation of a mutant U8 animal model for interrogating LCC-associated pathol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::849cb23302137c98d55f60d6c34d5a35
https://pubmed.ncbi.nlm.nih.gov/32359472

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