Article
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Genes - 30 Nov 2021
van de Stadt Stephanie I W, Mooyer Petra A W, Dijkstra Inge M E, Dekker Conny J M, Vats Divya, Vera Moin, Ruzhnikov Maura R Z, van Haren Keith, Tang Nelson, Koop Klaas, Willemsen Michel A, Hui Joannie, Vaz Frédéric M, Ebberink Merel S, Engelen Marc, Kemp Stephan, Ferdinandusse Sacha
Abstract excerpt
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibroblasts may help to classify a variant as (likely) benign or pathogenic. We sought to establish reference ranges for these tests in ALD patients and control subjects...
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