Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
| Autor: | Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| Popis: | 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. Keyswords: Asparagine synthetase deficiency, Microcephaly, Epileptic encephalopathy, Array CGH, Intragenic deletion, ASNS |
| Databáze: | OpenAIRE |
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