Publications about genetic testing for metabolic disorders
  1. Confirmation of ACER3-related recessive neurodegeneration

Confirmation of ACER3-related recessive neurodegeneration

Prof. Peter Bauer, MD 1 Claudia Cozma, MD 1 Aida M. Bertoli-Avella, MD 1 Christian Beetz 1 Anju Shukla, MD 2 Majid Alfadhel, MD 3 Krishna Kumar Kandaswamy, PhD 1 Omid Paknia, PhD 1 Oliver Brandau, MD 1 Prof. Arndt Rolfs, MD 1, 4
1 CENTOGENE AG 2 Manipal University 3 King Abdulaziz Medical City Riyadh 4 University of Rostock
October 16, 2018

Confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification

These findings were presented at the ASHG 2018.


Background:

  • Ceramidases cleave ceramides into fatty acids and sphingosine
  • They are thereby important players in lipid metabolism
  • Knockout of the murine alkaline ceramidase 3 (Acer3) entails a late onset gait phenotype, Purkinje cell degeneration and dysregulation of several ceramides
  • A homozygous missense variant in the human homologue ACER3 has been associated with leukodystrophy and abnormal ceramide/sphingolipid profiles in two patients from a single family