A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.
Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele contained a 24-bp deletion from the tandem repeat region of the open reading frame and a codon 178 missense substitution. Observations suggest that the codon 178 mutation is involved in the pathogenesis of FCJD in the family described here. The 24-bp deletion may be an uncommon polymorphism.
Bosque
P J
PJ
Department of Neurology, Vanderbilt University Medical Center, Nashville, TN.
Vnencak-Jones
C L
CL
Johnson
M D
MD
Whitlock
J A
JA
McLean
M J
MJ
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017353:Gene Deletion; D015321:Gene Rearrangement; D005796:Genes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics*; D016364:Reading Frames
D003062:Codon; D009419:Nerve Tissue Proteins; D018620:PrPSc Proteins; D011328:Prions