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

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.