ArticleMetabolic brain disease2015
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Article in Metabolic brain disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 44 citations in OpenAlex.
- Ketogenic Diet-Associated Remodeling of the Cortical Proteome in Rats With Genetic Absence Epilepsy.Brain and behavior · 2026Article
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- A missense variant in Exon 9 of theFrontiers in genetics · 2026Article
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Amino acid metabolism in health and disease.Signal transduction and targeted therapy · 2023Review
- Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.Nutrients · 2023Article
- Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.JIMD reports · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain : a journal of neurology · 2022Article
- Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model.iScience · 2022Article
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase.Biology · 2021Article
- Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.Molecular genetics & genomic medicine · 2020Review
- Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.Medicine · 2020Article
- Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.Molecular genetics and metabolism reports · 2019Article
- Clinical outcomes of two patients with a novel pathogenic variant inHuman genome variation · 2019Article
- Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.Congenital anomalies · 2018Review
- Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.Molecular genetics and metabolism · 2018Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Deficiency of Asparagine Synthetase (ASNSD, MIM 615574) is a very rare autosomal recessive disorder presenting with some brain abnormalities. Affected individuals have congenital microcephaly and progressive encephalopathy associated with severe intellectual disability and intractable seizures. The loss of function of the asparagine synthetase (ASNS, EC 6.3.5.4), particularly in the brain, is the major cause of this particular congenital microcephaly. In this study, we clinically evaluated an affected child from a consanguineous Emirati family presenting with congenital microcephaly and epileptic encephalopathy. In addition, whole-exome sequencing revealed a novel homozygous substitution mutation (c.1193A > C) in the ASNS gene. This mutation resulted in the substitution of highly conserved tyrosine residue by cysteine (p.Y398C). Molecular modeling analysis predicts hypomorphic and damaging effects of this mutation on the protein structure and altering its enzymatic activity. Therefore, we conclude that the loss of ASNS function is most likely the cause of this condition in the studied family. This report brings the number of reported families with this very rare disorder to five and the number of pathogenic mutations in the ASNS gene to four. This finding extends the ASNS pathogenic mutations spectrum and highlights the utility of whole-exome sequencing in elucidation the causes of rare recessive disorders that are heterogeneous and/or overlap with other conditions.
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