Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Research paper by Maki M Takahashi, Ayaka A Yamamoto, Kyoko K Takano, Akira A Sudo, Takahito T Wada, Yu-ichi Y Goto, Ichizo I Nishino, Shinji S Saitoh

Indexed on: 12 Jul '02Published on: 12 Jul '02Published in: Annals of Neurology


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.