HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.
A new mutation of the CD40LG gene that encodes the CD40 ligand molecule was characterized in a young patient harboring a hyper-IgM with immunodeficiency syndrome. Inactivation of CD40LG gene resulted from the insertion of an AluYb8 element in exon 1 responsible for a total deficiency of CD40 ligand expression by T lymphocytes. Maternal transmission of the X-linked mutation was confirmed by gene-specific polymerase chain reaction. This is the 17th case report concerning a human genetic disease caused by an Alu element insertion in a coding sequence.
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Laboratoire d'Immunogénétique Moléculaire, Université Paul Sabatier, Hôpital Purpan, 1 place Baylac, 31059 Toulouse, France.
Kuhlein
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Robert
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Rubie
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Blancher
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D020087:Alu Elements / Q000235:genetics*; D001483:Base Sequence; D023201:CD40 Ligand / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005091:Exons / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009154:Mutation
D023201:CD40 Ligand