Fetal MRI and ultrasound findings of a confirmed asparagine synthetase deficiency case

2020 ◽  
Vol 40 (10) ◽  
pp. 1343-1347
Author(s):  
Lauren E. Churchill ◽  
Paula R. Delk ◽  
Theodore E. Wilson ◽  
Wilfredo Torres‐Martinez ◽  
Caroline E. Rouse ◽  
...  
Keyword(s):  
Fetal Mri ◽  
Asparagine Synthetase ◽  
Synthetase Deficiency ◽  
Ultrasound Findings ◽  
Asparagine Synthetase Deficiency

scholarly journals Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase

Biology ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 294
Author(s):  
Thunyarat Surasiang ◽  
Chalongrat Noree
Keyword(s):  
Protein Expression ◽  
Stationary Phase ◽  
Lymphoblastic Leukemia ◽  
Energy Levels ◽  
Supramolecular Assembly ◽  
Asparagine Synthetase ◽  
Gene Encoding ◽  
Synthetase Deficiency ◽  
Asparagine Synthetase Deficiency ◽  
Intracellular Energy

Asparagine synthetase deficiency (ASD) has been found to be caused by certain mutations in the gene encoding human asparagine synthetase (ASNS). Among reported mutations, A6E mutation showed the greatest reduction in ASNS abundance. However, the effect of A6E mutation has not yet been tested with yeast asparagine synthetase (Asn1/2p). Here, we constructed a yeast strain by deleting ASN2 from its genome, introducing the A6E mutation codon to ASN1, along with GFP downstream of ASN1. Our mutant yeast construct showed a noticeable decrease of Asn1p(A6E)-GFP levels as compared to the control yeast expressing Asn1p(WT)-GFP. At the stationary phase, the A6E mutation also markedly lowered the assembly frequency of the enzyme. In contrast to Asn1p(WT)-GFP, Asn1p(A6E)-GFP was insensitive to changes in the intracellular energy levels upon treatment with sodium azide during the log phase or fresh glucose at the stationary phase. Our study has confirmed that the effect of A6E mutation on protein expression levels of asparagine synthetase is common in both unicellular and multicellular eukaryotes, suggesting that yeast could be a model of ASD. Furthermore, A6E mutation could be introduced to the ASNS gene of acute lymphoblastic leukemia patients to inhibit the upregulation of ASNS by cancer cells, reducing the risk of developing resistance to the asparaginase treatment.

scholarly journals Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

2017 ◽  
Vol 6 (1) ◽  
pp. 200-205 ◽  
Author(s):  
Avinash Abhyankar ◽  
Michelle Lamendola-Essel ◽  
Kelly Brennan ◽  
Jessica L. Giordano ◽  
Cecilia Esteves ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Defect ◽  
Asparagine Synthetase ◽  
Dried Blood Spot ◽  
Synthetase Deficiency ◽  
Whole Exome ◽  
Asparagine Synthetase Deficiency ◽  
Blood Spot

Asparagine Synthetase deficiency-report of a novel mutation and review of literature

2017 ◽  
Vol 32 (6) ◽  
pp. 1889-1900 ◽  
Author(s):  
Neerja Gupta ◽  
Vishal Vishnu Tewari ◽  
Manoj Kumar ◽  
Nitika Langeh ◽  
Aditi Gupta ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Asparagine Synthetase ◽  
Review Of Literature ◽  
Synthetase Deficiency ◽  
Asparagine Synthetase Deficiency

A rare cause of developmental delay and epilepsy in two siblings: Asparagine synthetase deficiency

2017 ◽  
Vol 21 ◽  
pp. e126-e127
Author(s):  
Meral Topcu ◽  
Didem Ardicli ◽  
Anna Malenica ◽  
Turgay Coskun ◽  
Kader Karli Oguz ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Asparagine Synthetase ◽  
Synthetase Deficiency ◽  
Asparagine Synthetase Deficiency

Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency

2020 ◽  
Author(s):  
Ghada M. H. Abdel-Salam ◽  
Mohamed S. Abdel-Hamid
Keyword(s):  
Brain Edema ◽  
Intracranial Hemorrhage ◽  
Deficiency Syndrome ◽  
Molybdenum Cofactor ◽  
Asparagine Synthetase ◽  
Synthetase Deficiency ◽  
Molybdenum Cofactor Deficiency ◽  
Feeding Difficulties ◽  
Asparagine Synthetase Deficiency ◽  
Cofactor Deficiency

AbstractHere we report a consanguineous Egyptian family with two siblings presented with congenital microcephaly, early-onset epileptic encephalopathy, feeding difficulties, and early lethality. The condition was initially diagnosed as molybdenum cofactor deficiency as the brain imaging for one of them showed brain edema and intracranial hemorrhage in addition to the hypoplastic corpus callosum, vermis hypoplasia, and small-sized pons. Subsequently, whole exome sequencing identified a novel homozygous missense variant in exon 4 of ASNS gene c.397_398GT > CA (p.Val133Gln) confirming the diagnosis of asparagine synthetase deficiency syndrome. No discernible alternative cause for the intracranial hemorrhage was found. Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the involvement of ASNS gene. As such, it is important to consider asparagine synthetase deficiency syndrome in patients with microcephaly, brain edema, and neonatal intracranial hemorrhage.

scholarly journals Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature

2018 ◽  
Vol 58 (5) ◽  
pp. 181-182 ◽  
Author(s):  
Chelna Galada ◽  
Malavika Hebbar ◽  
Leslie Lewis ◽  
Santosh Soans ◽  
Rajagopal Kadavigere ◽  
...  
Keyword(s):  
Asparagine Synthetase ◽  
Review Of Literature ◽  
Synthetase Deficiency ◽  
Novel Variants ◽  
Asparagine Synthetase Deficiency
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