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01-12-2017 | Original Article

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

Authors: Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, Nitika Langeh, Aditi Gupta, Pallavi Mishra, Punit Kaur, Vedam Ramprasad, Sakthivel Murugan, Reema Kumar, Manisha Jana, Madhulika Kabra

Published in: Metabolic Brain Disease | Issue 6/2017

Abstract

Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. It manifests with a severe neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity and refractory seizures. To date, nineteen patients from twelve unrelated families have been identified. Majority of the mutations are missense and nonsense mutations in homozygous or compound heterozygous state. We add another case from India which harbored a novel homozygous missense variation in exon 11 and compare the current case with previously reported cases.

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Title: Asparagine Synthetase deficiency-report of a novel mutation and review of literature
Authors: Neerja Gupta
Vishal Vishnu Tewari
Manoj Kumar
Nitika Langeh
Aditi Gupta
Pallavi Mishra
Punit Kaur
Vedam Ramprasad
Sakthivel Murugan
Reema Kumar
Manisha Jana
Madhulika Kabra
Publication date: 01-12-2017
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 6/2017
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0073-6

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

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