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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
Human Genome Variation Pub Date : 2021-04-01 , DOI: 10.1038/s41439-021-00144-y
Keiko Yamamoto-Shimojima 1, 2, 3 , Hiroyuki Akagawa 3 , Kumiko Yanagi 4 , Tadashi Kaname 4 , Nobuhiko Okamoto 5 , Toshiyuki Yamamoto 2, 3
Affiliation  

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.



中文翻译:

PLP1 内含子 3 的深度内含子缺失与严重的 Pelizaeus-Merzbacher 病表型相关

最近,改变的PLP1剪接被证实是早期髓鞘结构 (HEMS) 髓鞘形成不足的遗传原因。在PLP1 的内含子 3 (NM_000533.5: c.453+59_+259del) 中发现了一个新的深内含子缺失,体外小基因检测检测到异常剪接模式。然而,患者的临床和放射学发现与严重的 Pelizaeus-Merzbacher 病表型而不是 HEMS相符,这可能是由于未检测到的异常PLP1剪接。

更新日期:2021-04-01
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