Molecular Analysis of Pheochromocytoma after Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect | Zendy

Phey Ming Yeap | Zendy; Edward S. Tobias | Zendy; Eleni Mavraki | Zendy; Alexander J. Fletcher | Zendy; Nicola Bradshaw | Zendy; E. Marie Freel | Zendy; Alexander Cooke | Zendy; Victoria A. Murday | Zendy; H. Rosemarie Davidson | Zendy; Colin Perry | Zendy; Robert S. Lindsay | Zendy

Open Access

Molecular Analysis of Pheochromocytoma after Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect

Author(s) -

Phey Ming Yeap,

Edward S. Tobias,

Eleni Mavraki,

Alexander J. Fletcher,

Nicola Bradshaw,

E. Marie Freel,

Alexander Cooke,

Victoria A. Murday,

H. Rosemarie Davidson,

Colin Perry,

Robert S. Lindsay

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-1244

Subject(s) - sdhd , paraganglioma , loss of heterozygosity , pheochromocytoma , biology , genetics , germline mutation , allele , mutation , cancer research , pathology , endocrinology , medicine , gene

Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss of the maternal copy of chromosome 11. Loss of wild-type SDHD and an additional imprinted gene (hypothesized to be H19) appears necessary for tumor formation. Two previous reports suggested tumor formation after maternal transmission of SDHD mutation, but histological and molecular characterization was unavailable.

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