OMIM: 245200Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GALC |
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| Dna Change: | c.1657G>A |
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| Protein Change: | p.Gly553Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 14 |
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| Transcript: | NM_000153.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Southern (Naples) | 7 patients/ 28 patients | NA | Tappino B et al., 2010Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M, . Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.. Hum. Mutat.. 2010; 31(12):E1894-914 |
| Gene/Locus: | GALC |
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| Dna Change: | c.121G>A |
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| Protein Change: | p.Gly41Ser |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 1 |
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| Transcript: | NM_000153.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sicily | 7/9 alleles | NA | Lissens W et al., 2007Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A, . A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.. Hum. Mutat.. 2007; 28(7):742 |
References
Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A, A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.Hum. Mutat.. 2007; 28(7):742
Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M, Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.Hum. Mutat.. 2010; 31(12):E1894-914