OMIM: 171300Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SDHB |
|---|
| Dna Change: | c.166_170delCCTCA |
|---|
| Protein Change: | p.Pro56TyrfsX5 |
|---|
| Mutation Type: | Deletion |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 2 |
|---|
| Transcript: | NM_003000.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Spain | NA | NA | NA | NA | Cascón A et al., 2009Cascón 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 |
| Gene/Locus: | SDHD |
|---|
| Dna Change: | c.129G>A |
|---|
| Protein Change: | p.Trp43X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 2 |
|---|
| Transcript: | NM_003002.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Spain | NA | NA | NA | NA | Cascón A et al., 2009Cascón 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 |
| Gene/Locus: | SDHD |
|---|
| Dna Change: | c.325C>T |
|---|
| Protein Change: | p.Gln109X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 4 |
|---|
| Transcript: | NM_003002.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | NA | 6 patients/6 unrelated families | NA | Mannelli M et al., 2006Mannelli 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 |
| Italy | NA | NA | 6 patients/6 unrelated families | NA | Simi L et al., 2005Simi 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 |
References
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
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