| Phenotype: | Paragangliomas 1, with or without deafness |
|---|---|
| Dna Change: | c.341A>G |
| Protein Change: | p.Tyr114Cys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 4 |
| Transcript: | NM_003002.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | Trento | 15 patients/15 families | dated between the 14th and 15th century | Schiavi F et al., 2012Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G, . The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.. J. Clin. Endocrinol. Metab.. 2012; 97(4):E637-41 |
| Phenotype: | Pheochromocytoma |
|---|---|
| Dna Change: | c.129G>A |
| Protein Change: | p.Trp43X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 2 |
| Transcript: | NM_003002.3 |
| Phenotype: | Pheochromocytoma |
|---|---|
| Dna Change: | c.325C>T |
| Protein Change: | p.Gln109X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 4 |
| Transcript: | NM_003002.3 |
Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M, Genetics of pheochromocytoma and paraganglioma in Spanish patients.J. Clin. Endocrinol. Metab.. 2009; 94(5):1701-5
Mannelli M, Simi L, Ercolino T, Gaglianò MS, Becherini L, Vinci S, Sestini R, Gensini F, Pinzani P, Mascalchi M, Guerrini L, Pratesi C, Nesi G, Torti F, Cipollini F, Bernini GP, Genuardi M, SDH mutations in patients affected by paraganglioma syndromes: a personal experience.Ann. N. Y. Acad. Sci.. 2006; 1073(0):183-9
Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G, The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.J. Clin. Endocrinol. Metab.. 2012; 97(4):E637-41
Simi L, Sestini R, Ferruzzi P, Gaglianò MS, Gensini F, Mascalchi M, Guerrini L, Pratesi C, Pinzani P, Nesi G, Ercolino T, Genuardi M, Mannelli M, Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.J. Med. Genet.. 2005; 42(8):e52