In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP.
Kleindorfer
D O
DO
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Dlouhy
S R
SR
Pratt
V M
VM
Jones
M C
MC
Trofatter
J A
JA
Hodes
M E
ME
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D017384:Sequence Deletion
D017931:DNA Primers; D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D004247:DNA