A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 DeltaAGTT). The result is a frameshift mutation that leads to a stop codon in exon 5. This mutation is associated with a dramatic decrease of HEXB mRNA levels.
Gomez-Lira
M
M
Dipartimento Materno Infantile e di Biologia e Genetica, Sezione Biologia e Genetica, Università di Verona, Strada Le Grazie 8, Verona, 37134, Italia. macarena@borgoroma.univr.it
Mottes
M
M
Perusi
C
C
Pignatti
P F
PF
Rizzuto
N
N
Gatti
R
R
Salviati
A
A
D001483:Base Sequence; D018388:Codon, Terminator; D016368:Frameshift Mutation; D020143:Gangliosidoses, GM2 / Q000235:genetics / Q000378:metabolism; D054819:Hexosaminidase B; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis; D012497:Sandhoff Disease / Q000235:genetics*; D017384:Sequence Deletion; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D018388:Codon, Terminator; D012333:RNA, Messenger; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases