ArticleBMC neurology2016
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
Article in BMC neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- Genetic variants underlying congenital Zika syndrome and severe microcephaly: a systematic review and meta-analysis.Virusdisease · 2025Article
- Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Human genomics · 2024Article
- 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
- Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.medRxiv : the preprint server for health sciences · 2023Article
- Expression and Activity of the Transcription Factor CCAAT/Enhancer-Binding Protein β (C/EBPβ) Is Regulated by Specific Pulse-Modulated Radio Frequencies in Oligodendroglial Cells.International journal of molecular sciences · 2023Article
- A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.Biology methods & protocols · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- 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
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 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
- Novel Mutations in the Asparagine Synthetase Gene (Frontiers in genetics · 2018Article
- Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.Clinical case reports · 2018Article
- Asparagine synthetase: Function, structure, and role in disease.The Journal of biological chemistry · 2017Review
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAsparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21. CASE PRESENTATION: Family 1 is a multiplex consanguineous family with five affected members, while Family 2 is simplex. One affected from each family was available for detailed phenotyping. Both patients (Patients 1 and 2) presented at birth with microcephaly and severe hyperekplexia, and were found to have gross brain malformation characterized by simplified gyral pattern, and hypoplastic cerebellum and pons. EEG showed no epileptiform discharge in Patient 2 but multifocal discharges in patient 1. Patient 2 is currently four years old with severe neurodevelopmental delay, quadriplegia and cortical blindness. Whole exome sequencing (WES) revealed a novel homozygous mutation in ASNS (NM_001178076.1) in each patient (c.970C > T:p.(Arg324*) and c.944A > G:p.(Tyr315Cys)).
conclusionOur results expand the mutational spectrum of the recently described asparagine synthetase deficiency and show a remarkable clinical homogeneity among affected individuals, which should facilitate its recognition and molecular confirmation for pertinent and timely genetic counseling.
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