Pheochromocytoma Molecular Analysis After Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect Abstract #527

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 ENETS Conference (2012)
Category: Basic
Presenting Author: Dr Edward Tobias

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