Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hy...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2024-06, Vol.39, p.101067, Article 101067
Main Authors: Zhong, Dan, Huang, Xiujuan, Feng, Taoshan, Zeng, Jieqing, Gu, Shanshan, Ning, Fan, Yang, Yue, Zhu, Jinyuan, Wang, Yajun, Chen, Riling, Ma, Guoda
Format: Article
Language:English
Subjects:
Cerebellar dysplasia
Congenital disorder of glycosylation type Ia
Liver injury
Phosphomannomutase 2
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Summary:Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hypoplasia, severe developmental retardation, hypothyroidism, impaired liver function, and abnormal serum ferritin levels. Through whole-exome sequencing, we discovered novel complex heterozygous mutations in the PMM2 gene, specifically the c.663C > G (p.F221L) mutation and loss of exon 2. Further analysis revealed that the enzymatic activity of the mutant PMM2 protein was significantly reduced by 44.97% (p 
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2024.101067