Yamamoto-Shimojima Keiko, Akagawa Hiroyuki, Yanagi Kumiko, Kaname Tadashi, Okamoto Nobuhiko, Yamamoto Toshiyuki
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Hum Genome Var. 2021 Apr 1;8(1):14. doi: 10.1038/s41439-021-00144-y.
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.
最近，PLP1剪接改变被确认为早期髓鞘形成结构（HEMS）髓鞘形成不足的一个遗传原因。在PLP1基因的第3内含子中发现了一个新的深度内含子缺失（NM_000533.5: c.453+59_+259del），体外小基因检测发现了异常剪接模式。然而，该患者的临床和影像学表现与佩利措伊斯-梅茨巴赫病的严重表型相符，而非与HEMS相符，这可能是由于未检测到的PLP1异常剪接所致。
