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Mitochondrial DNA insert into CD40 ligand gene-associated X-linked hyper-IgM syndrome. 2021

Xuejing Li, and Dan Xu, and Beilei Cheng, and Yunlian Zhou, and Zhimin Chen, and Yingshuo Wang
Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

X-linked hyper-IgM (X-HIGM), which results from mutations in the CD40LG 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 mitochondrial DNA sequences (NUMTs) in the CD40LG gene that have resulted in X-HIGM. Whole-exome sequencing (WES) analysis was used to screen for causal variants in the genome, and the candidate breakpoint was confirmed by Sanger sequencing. 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. 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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016254 Mutagenesis, Insertional Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation. Gene Insertion,Insertion Mutation,Insertional Activation,Insertional Mutagenesis,Linker-Insertion Mutagenesis,Mutagenesis, Cassette,Sequence Insertion,Viral Insertional Mutagenesis,Activation, Insertional,Activations, Insertional,Cassette Mutagenesis,Gene Insertions,Insertion Mutations,Insertion, Gene,Insertion, Sequence,Insertional Activations,Insertional Mutagenesis, Viral,Insertions, Gene,Insertions, Sequence,Linker Insertion Mutagenesis,Mutagenesis, Linker-Insertion,Mutagenesis, Viral Insertional,Mutation, Insertion,Mutations, Insertion,Sequence Insertions
D053307 Hyper-IgM Immunodeficiency Syndrome, Type 1 An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND. HIGM1,HIGM1 Syndrome,Hyper-IgM Immunodeficiency, X-Linked,Hyper-IgM Syndrome 1,Immunodeficiency with Hyper-IgM, Type 1,X-Linked Hyper IgM Syndrome,HIGM1 Syndromes,Hyper IgM Immunodeficiency Syndrome, Type 1,Hyper IgM Immunodeficiency, X Linked,Hyper IgM Syndrome 1,Hyper-IgM Immunodeficiencies, X-Linked,Immunodeficiencies, X-Linked Hyper-IgM,Immunodeficiency with Hyper IgM, Type 1,Immunodeficiency, X-Linked Hyper-IgM,X Linked Hyper IgM Syndrome,X-Linked Hyper-IgM Immunodeficiencies,X-Linked Hyper-IgM Immunodeficiency
D023201 CD40 Ligand A membrane glycoprotein and differentiation antigen expressed on the surface of T-cells that binds to CD40 ANTIGENS on B-LYMPHOCYTES and induces their proliferation. Mutation of the gene for CD40 ligand is a cause of HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1. Antigens, CD154,CD154 Antigens,Tumor Necrosis Factor Ligand Superfamily Member 5,Antigen, CD154,CD154 Antigen,CD40L,T-B Cell Activating Molecule,TNF Superfamily, Member 5,gp39 Antigen, T-Cell,T-Cell gp39 Antigen,gp39 Antigen, T Cell

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