Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that includes the 3' end of exon 1. This implies that both his parents are heterozygous for deletions of exon 1 sequences. Consistent with this finding, the patient has no detectable adenosine deaminase mRNA by Northern analysis. This is the first report of a deletion mutation as the cause of adenosine deaminase deficiency.
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure; D004247:DNA / Q000032:analysis; D005091:Exons; D005796:Genes; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*; D012333:RNA, Messenger / Q000032:analysis
D012333:RNA, Messenger; D004247:DNA; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase