Autosomal dominant mitochondrial membrane protein ‐associated neurodegeneration (MPAN)

ConclusionsWe present three lines of clinical evidence to demonstrate that MPAN can manifest as a result of only one pathogenicC19orf12 sequence variant. We propose that truncated C19orf12 proteins, resulting from nonsense variants in the final exon in our autosomal dominant cohort, impair function of the normal protein produced from the non ‐mutated allele via a dominant negative mechanism and cause loss of function. These findings impact the clinical diagnostic evaluation and counseling.

Source: Molecular Genetics & Genomic Medicine - May 12, 2019 Category: Genetics & Stem Cells Authors: Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Dap Tags: ORIGINAL ARTICLE Source Type: research