Title |
Asparagine Synthetase deficiency-report of a novel mutation and review of literature
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Published in |
Metabolic Brain Disease, August 2017
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DOI | 10.1007/s11011-017-0073-6 |
Pubmed ID | |
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 |
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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Country | Count | As % |
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Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 4 | 16% |
Other | 2 | 8% |
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Other | 3 | 12% |
Unknown | 6 | 24% |
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Other | 2 | 8% |
Unknown | 7 | 28% |