Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).
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.
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
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
D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008247:Lysosomes / Q000378:metabolism* / Q000473:pathology*; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology
D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins