SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
Patel
Heema
H
Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.
Cross
Harold
H
Proukakis
Christos
C
Hershberger
Ruth
R
Bork
Peer
P
Ciccarelli
Francesca D
FD
Patton
Michael A
MA
McKusick
Victor A
VA
Crosby
Andrew H
AH
D000251:Adenosine Triphosphatases; D000273:Adipose Tissue / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000378:metabolism; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
D002135:Calcium-Binding Proteins; D018797:Cell Cycle Proteins; D011506:Proteins; C464787:SPART protein, human; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human