OMIM: 607485Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GRN |
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| Dna Change: | p.Leu271LeufsX10 |
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| Protein Change: | |
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| Mutation Type: | |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_002087.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 30 families/32 families | 20 generations ago | Benussi L et al., 2013Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R, . Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.. J. Alzheimers Dis.. 2013; 33(1):69-76 |
| Gene/Locus: | GRN |
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| Dna Change: | c.813_816delCACT |
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| Protein Change: | p.Thr272SerfsX10 |
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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_002087.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 16 patients/ 14 unrelated families | between 260 and 295 generations ago | Borroni B et al., 2011Borroni B, Bonvicini C, Galimberti D, Tremolizzo L, Papetti A, Archetti S, Turla M, Alberici A, Agosti C, Premi E, Appollonio I, Rainero I, Ferrarese C, Gennarelli M, Scarpini E, Padovani A, . Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.. Neurobiol. Aging. 2011; 32(3):555.e1-8 |
References
Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R, Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.J. Alzheimers Dis.. 2013; 33(1):69-76
Borroni B, Bonvicini C, Galimberti D, Tremolizzo L, Papetti A, Archetti S, Turla M, Alberici A, Agosti C, Premi E, Appollonio I, Rainero I, Ferrarese C, Gennarelli M, Scarpini E, Padovani A, Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.Neurobiol. Aging. 2011; 32(3):555.e1-8