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X-linked chronic granulomatous disease (X-CGD) is the most common type of CGD, whose responsible gene has been identified and termed as CYBB, according to the gp91-phox, a subunit of cytochrome b558. Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported. We made a genetic analysis of six newly identified X-CGD patients together with that of eight previously reported X-CGD patients. The mutations newly detected were three missense mutations, two splice mutations, and one insertion of 2 bases. All of the mutations were novel. Twelve mothers (two of them came from the same family) and four maternal grandmothers from 13 different X-CGD families were available for further genetic studies. It was revealed that a proportion of sporadic patients was low and that of sporadic carriers was high. These results suggest that the mutation for the disease originates mainly from male gametes.

pediatric research

Genetic Analysis of 13 Families with X-Linked Chronic Granulomatous Disease Reveals a Low Proportion of Sporadic Patients and a High Proportion of Sporadic Carriers