OMIM: 252900Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SGSH |
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| Dna Change: | 1091delC |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 8 |
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| Transcript: | NM_000199.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Barcelona | 37% of the mutant alleles | NA | Chabás A et al., 2001Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L, . Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.. Am. J. Med. Genet.. 2001; 100(3):223-8 |
| Spain | NA | NA | 6 patients/11 patients | NA | Montfort M et al., 1998Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D, . Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.. Hum. Mutat.. 1998; 12(4):274-9 |
| Gene/Locus: | SGSH |
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| Dna Change: | c.197C>G |
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| Protein Change: | p.Ser66Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000199.3 |
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References
Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L, Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.Am. J. Med. Genet.. 2001; 100(3):223-8
Di Natale P, Balzano N, Esposito S, Villani GR, Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.Hum. Mutat.. 1998; 11(4):313-20
Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D, Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.Hum. Mutat.. 1998; 12(4):274-9