Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. DPM2 is one subunit of a heterotrimeric complex for dolichol-phosphatemannose synthase (DPMS), a key enzyme in glycosylation, and...

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Bibliographic Details
Main Authors: Peiwei Zhao, Yanqiu Hu, Juan Hu, Cheng Li, Yufeng Huang, Lei Zhang, Sukun Luo, Hongmin Zhu, Jun Jiang, Xuelian He
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Genetics
Subjects:
congenital disorders of glycosylation
DPM2
whole-exome sequencing
mutation
correlation of genotype–phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.930692/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.930692/full

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