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

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Introduction: In SDHD mutation families, paragangliomas and pheochromocytomas usually occur only after paternal transmission of the mutation. This important but unexplained parent-of-origin effect is not due to imprinting of the SDHD gene itself (as was initially suspected) since SDHD is biallelically expressed.

Aim(s): To investigate the aetiology of the second case of an SDHD-related tumor occurring after maternal transmission (a pheochromocytoma in a 33-year-old woman possessing the common pathogenic mutation, p.Pro81Leu). It is the first reported investigation of tumor DNA in this situation.

Materials and methods: Molecular genetic analysis of tumor and blood DNA, using markers, DNA sequencing and MLPA.

Conference: 9th Annual ENETSConcerence (2012)

Presenting Author:

Authors: Tobias E, Yeap P, Mavraki E, Fletcher A, Freel M,

Keywords: SDHD, imprinting, paraganglioma,