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Two novel mutations in the gene for human α‐mannosidase that cause α‐mannosidosis
Author(s) -
Beccari T.,
Bibi L.,
Ricci R.,
Antuzzi D.,
Burgalossi A.,
Costanzi E.,
Orlacchio A.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000010006.87571.48
Subject(s) - frameshift mutation , genetics , mutation , exon , gene , stop codon , human genetics , biology , mutation testing
Summary: Mutation analysis performed on two Italian patients with α‐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.
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