Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

ConclusionIdentification of the exact breakpoints now allows further straightforward molecular genetic testing of potential carriers of the inversion. This study extends the pathogenic variant spectrum of DHPR deficiency and highlights the role of structural variants in recessive metabolic disorders. To our knowledge, this is the first report on a large, canonical (rather than complex) homozygous pathogenic inversion detected by genome sequencing.

Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Hardo Lillev äli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap Tags: ORIGINAL ARTICLE Source Type: research