Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Abstract

We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on the other allele detected respectively by array comparative genomic hybridization (CGH) and Sanger sequencing. Amino acid analysis provided a biochemical confirmation. Previous cases of Asparagine synthetase deficiency were diagnosed though exome Sequencing. The combination of several techniques (array CGH, sequencing, and biochemical analysis) improves the opportunity to provide accurate diagnosis.

• Authors: Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 21 Pg. 100509 (Dec 2019) ISSN: 2214-4269 [Print] United States
• PMID: 31720226 (Publication Type: Case Reports)
• Copyright: © 2019 The Authors.