Processed Pseudogene Confounding Deletion/Duplication Assays for

Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. SMAD4 is part of the SMAD gene family. To date, there has been no report in the literature of a SMAD4 pseudogene. An unusual SMAD4 duplication pattern was seen in multiple patient samples using two different duplication/deletion platforms: multiplex ligation–dependent probe amplification and chromosomal microarray. Follow-up confirmatory testing included real-time quantitative PCR and sequencing of an exon/exon junction, all results leading to the conclusion of the existence of a processed pseudogene.

Source: Journal of Molecular Diagnostics - July 9, 2015 Category: Pathology Authors: Alison Millson, Tracey Lewis, Tina Pesaran, David Salvador, Katrina Gillespie, Chia-Ling Gau, Genevieve Pont-Kingdon, Elaine Lyon, Pinar Bayrak-Toydemir Tags: Regular Article Source Type: research