Gene: succinate dehydrogenase complex, subunit D, integral membrane protein; SDHD


Gene Symbol: SDHD
OMIM: 602690
Chromosome location: 11q23.1

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Paragangliomas 1, with or without deafness || c.341A>G

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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNATrento15 patients/15 familiesdated between the 14th and 15th centurySchiavi 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

Pheochromocytoma || c.129G>A

Phenotype:    Pheochromocytoma
Dna Change:    c.129G>A
Protein Change:    p.Trp43X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 2
Transcript:    NM_003002.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANACascón 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

Pheochromocytoma || c.325C>T

Phenotype:    Pheochromocytoma
Dna Change:    c.325C>T
Protein Change:    p.Gln109X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 4
Transcript:    NM_003002.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA6 patients/6 unrelated familiesNAMannelli 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
ItalyNANA6 patients/6 unrelated familiesNASimi 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

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