Identification of two compound heterozygous VPS13A large deletions in chorea ‐acanthocytosis only by protein and quantitative DNA analysis

ConclusionOur case demonstrates the need to carry out detection of chorein in patients suspected of having ChAc as a helpful and potentially decisive tool to establish diagnosis. Furthermore, the course of the molecular analysis in this case discloses diagnostic pitfalls in detecting some variations, such as deletions, using only standard genomic DNA (gDNA) Sanger sequencing approaches and exemplifies alternative methods, such as RNA/cDNA sequencing or qRT ‐PCR analysis, necessary to avoid false negative results.

Source: Molecular Genetics & Genomic Medicine - February 14, 2020 Category: Genetics & Stem Cells Authors: Derek Spieler, Antonio Velayos ‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek Tags: ORIGINAL ARTICLE Source Type: research