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Mitochondrial DNA insert into CD40 ligand gene-associated X-linked hyper-IgM syndrome
Xuejing Li1, Dan Xu1, Beilei Cheng1
1Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Molecular Genetics & Genomic Medicine
|March 25, 2021
Summary
A novel genetic mutation causing X-linked hyper-IgM (X-HIGM) was identified. This rare condition resulted from nuclear mitochondrial DNA sequences (NUMTs) inserting into the CD40LG gene, offering a new understanding of X-HIGM.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- X-linked hyper-IgM (X-HIGM) is the most common form of hyper-IgM, typically caused by mutations in the CD40LG gene.
- Over 130 variants of the CD40L gene have been reported, leading to various genetic disorders.
- This study focuses on a unique case involving novel genetic alterations.
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