Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Keiko Yamamoto-Shimojima; Hiroyuki Akagawa; Kumiko Yanagi; Tadashi Kaname; Nobuhiko Okamoto; Toshiyuki Yamamoto

doi:10.1038/s41439-021-00144-y

Human Genome Variation (Apr 2021)

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Keiko Yamamoto-Shimojima,
Hiroyuki Akagawa,
Kumiko Yanagi,
Tadashi Kaname,
Nobuhiko Okamoto,
Toshiyuki Yamamoto

Affiliations

Keiko Yamamoto-Shimojima: Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
Hiroyuki Akagawa: Tokyo Women’s Medical University Institute of Integrated Medical Sciences
Kumiko Yanagi: Department of Genome Medicine, National Center for Child Health and Development
Tadashi Kaname: Department of Genome Medicine, National Center for Child Health and Development
Nobuhiko Okamoto: Department of Medical Genetics, Osaka Women’s and Children’s Hospital
Toshiyuki Yamamoto: Institute of Medical Genetics, Tokyo Women’s Medical University

DOI: https://doi.org/10.1038/s41439-021-00144-y
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 4

Abstract

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Abstract Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay detected abnormal splicing patterns. However, the clinical and radiological findings of the patient were compatible with a severe phenotype of Pelizaeus-Merzbacher disease rather than HEMS, which may be due to undetected abnormal PLP1 splicing.

Published in Human Genome Variation

ISSN: 2054-345X (Online)
Publisher: Nature Publishing Group
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics; Science: Biology (General): Life
Website: http://www.nature.com/hgv/

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