Medical Knowledge Cockpit paragangliomas 1, with or without deafness

SDHD

• Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
• Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management
• The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

 

SDHD

Somatic tumors

Tumor types germline

paraganglioma, pheochromocytoma

Cancer Syndrom

familial paraganglioma

Translocation partner

Name

succinate dehydrogenase complex, subunit D, integral membrane protein

Chromosome banding

11q23

Cancer molecular gen.

Rec

Mutation type

Mis, N, F, S

Other syndrome disease

 

SDHD

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation ofsuccinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix sideof the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternalallele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene onchromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided byRefSeq, Feb 2013)

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation ofsuccinate

The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix sideof the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternalallele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene onchromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided byRefSeq, Feb 2013)