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

Abstract

Tumor formation can occur after maternal transmission of SDHD, a finding with important clinical implications for SDHD families. Tumor formation in SDHD mutation requires the loss of both the wild-type SDHD allele and maternal 11p15, leading to the predominant but now not exclusive pattern of disease inheritance after paternal SDHD transmission.