A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Abstract Background Congenital disorders of glycosylation (CDGs) are genetic diseases caused by pathogenic variants of genes involved in protein or lipid glycosylation. De novo variants in the SLC35A2 gene, which encodes a UDP‐galactose transporter, are responsible for CDGs with an X‐linked dominant...

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Bibliographic Details
Main Authors: Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital disorders of glycosylation
delayed myelination
SLC35A2
spastic paraplegia
splice site variant
Online Access:https://doi.org/10.1002/mgg3.814

Internet

https://doi.org/10.1002/mgg3.814

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