Mitochondrial Dna Insert Into Cd40 Ligand Gene-Associated X-Linked Hyper-Igm Syndrome

MOLECULAR GENETICS & GENOMIC MEDICINE(2021)

Cited 0|Views1
No score
Abstract
Background: X-linked hyper-IgM (X-HIGM), which results from mutations in the CD4OLG gene located on chromosome Xq26.3, is the most common form of HIGM. To date, more than 130 variants of the CD40L gene have been reported. We described a patient with novel de novo nuclear mitochondria) DNA sequences (NUMTs) in the CD40LG gene that have resulted in X-HIGM.Methods: Whole-exome sequencing (WES) analysis was used to screen for causal variants in the genome, and the candidate breakpoint was confirmed by Sanger sequencing.Results: A new mutation of CD40LG, which deletes A at position 17 followed by a 147-nucleotide from mitochondrial DNA copies insertion in exon 1, was detected in a 20-month-old boy harbouring an X-HIGM combined with immunodeficiency syndrome.Conclusion: This is one of the few cases of a human genetic disease caused by nuclear mitochondrial DNA sequences (NUMTs). The presented data serve to demonstrate that de novo NUMT transfer of nucleic acid is a novel mechanism of X-HIGM.
More
Translated text
Key words
CD40LG, insertional mutation, nuclear mitochondrial DNA sequences, X-linked hyper-IgM syndrome
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined