OMIM: 256540Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CTSA |
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| Dna Change: | c.114delG |
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| Protein Change: | p.Ser39ProfsX71 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 2 |
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| Transcript: | NM_000308.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 3 patients | NA | Caciotti A et al., 2013Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A, . Galactosialidosis: review and analysis of CTSA gene mutations.. Orphanet J Rare Dis. 2013; 8(0):114 |
References
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A, Galactosialidosis: review and analysis of CTSA gene mutations.Orphanet J Rare Dis. 2013; 8(0):114