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.
Markert, ML; Hershfield, MS; Wiginton, DA; States, JC; Ward, FE; Bigner, SH; Buckley, RH; Kaufman, RE; Hutton, JJ
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