Case Reports
doi: 10.1002/ana.10235.
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)
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- PMID: 12112061
- DOI: 10.1002/ana.10235
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Case Reports
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)
Ann Neurol.
2002 Jul.
Abstract
We identified a family with lysosome-associated membrane protein-2 deficiency (Danon disease) associated with a novel 883 ins-T mutation in the lysosome-associated membrane protein-2 gene located at Xq24. Although the affected son and daughter carried the same mutation, it was not detected in their mother's peripheral blood or buccal cells; this indicated germline mosaicism. This is the first molecular evidence for germline mosaicism in Danon disease and has important implications for genetic counseling.
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