ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- A missense variant in Exon 9 of theFrontiers in genetics · 2026Article
- Case Report: a novel homozygousFrontiers in neuroscience · 2025Article
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.JIMD reports · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAsparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical testing as a frontline investigation in ASNSD.
methodsWe retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in Saudi Arabia.
resultsThe major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain abnormalities (100%), spasticity (86%), and infantile-onset seizures (93%). Additional unreported phenotypes included umbilical hernia, osteopenia, eczema, lung hypoplasia, and hearing loss. Overall, seven homozygous variants accounted for ASNSD. The p.Tyr398Cys and p.Asn75Ile variants accounted for 54% of the cases. The clinical sensitivity and specificity of the proposed biochemical analysis of cerebrospinal fluid (CSF) for the detection of patients with ASNSD were 83% and 98%, respectively.
conclusionOur study describes the largest reported ASNSD cohort with clinical, molecular, and biochemical characterization. Taking into consideration the suboptimal sensitivity of biochemical screening, the delineation of the phenotype variant spectrum is of diagnostic utility for accurate diagnosis, prognosis, counseling, and carrier screening.
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