Pj. Wang et al., DUPLICATION OF PROTEOLIPID PROTEIN GENE - A POSSIBLE MAJOR CAUSE OF PELIZAEUS-MERZBACHER-DISEASE, Pediatric neurology, 17(2), 1997, pp. 125-128
The classic form of Pelizaeus-Merzbacher disease is a rare X-linked dy
smyelinating disorder of the central nervous system in which mutations
of the proteolipid protein gene have been reported since 1989. Howeve
r, mutations in the proteolipid protein gene have been identified in o
nly 10 to 25% of all cases of Pelizaeus-Merzbacher disease, which sugg
ests that other genetic aberrations may be present, Recently, proteoli
pid protein gene overdosage was discovered to cause Pelizaeus-Merzbach
er disease, By using comparative multiplex polymerase chain reaction a
nd restriction fragment length polymorphism analysis, we confirmed the
proteolipid protein gene duplication as the cause of Pelizaeus-Merzba
cher disease in 4 patients from 3 Chinese families with Pelizaeus-Merz
bacher disease with no detectable exonic mutations, These results supp
ort the hypothesis that proteolipid protein gene duplication may be a
major cause of Pelizaeus-Merzbacher disease in all ethnic groups and a
lso suggest that the molecular diagnosis of Pelizaeus-Merzbacher disea
se should therefore include duplication analysis of proteolipid protei
n gene. (C) 1997 by Elsevier Science Inc. All rights reserved.