Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375A > G (R459G) and 1378C > T (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes. This study suggests that denaturing high-performance liquid chromatography would be a fast and reliable tool in the investigation of the molecular defects in the SPG4 gene.
Laboratorio di Patologia Genetica, IRCCS Oasi Maria SS, via Conte Ruggero 73, Troina (Enna) 94018, Italy.
Michele
M
Falco
Carmela
C
Scuderi
Sebastiano
S
Musumeci
Maurizio
M
Sturnio
Marcella
M
Neri
Stefania
S
Bigoni
Luisa
L
Caniatti
Marco
M
Fichera
D000251:Adenosine Triphosphatases; D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D000074181:Spastin
D002135:Calcium-Binding Proteins; D012333:RNA, Messenger; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human