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.
Takahashi
Maki
M
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Yamamoto
Ayaka
A
Takano
Kyoko
K
Sudo
Akira
A
Wada
Takahito
T
Goto
Yu-ichi
Y
Nishino
Ichizo
I
Saitoh
Shinji
S
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