Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

BackgroundSpastic paraplegia type 54 (SPG54) is a rare inherited autosomal recessive disorder, and a complex hereditary spastic paraplegia (HSP) caused by mutations in the phospholipase DDHD2 gene. SPG54 is characterized by early onset of spastic paraplegia, intellectual disability and dysplasia of...

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Bibliographic Details
Main Authors: Xin Xu, Fen Lu, Senjie Du, Xiaoke Zhao, Hongying Li, Li Zhang, Jian Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Pediatrics
Subjects:
spastic paraplegia
DDHD2
compound heterozygous mutations
intellectual disability
children
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.997274/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.997274/full

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