Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis.
Mutation analysis performed on two Italian patients with alpha-mannosidosis allowed the identification of two new mutations, IVS20-2A>G and 322-323insA. The patients were both homozygous for these mutations. The first mutation causes skipping of exon 21, whereas the second causes a frameshift introducing a stop codon at position 160 of the amino acid sequence.
Beccari
T
T
Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, Universitá degli Studi di Perugia, Via del Giochetto, 06126 Perugia, Italy. tbeccari@unipg.it
Bibi
L
L
Ricci
R
R
Antuzzi
D
D
Burgalossi
A
A
Costanzi
E
E
Orlacchio
A
A
D006801:Humans; D009154:Mutation; D043323:alpha-Mannosidase / Q000235:genetics*; D008363:alpha-Mannosidosis / Q000209:etiology / Q000235:genetics*
D043323:alpha-Mannosidase