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

Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20.

Authors

Chelna Galada¹, Malavika Hebbar¹, Leslie Lewis², Santosh Soans³, Rajagopal Kadavigere⁴, Anshika Srivastava⁵, Stephanie Bielas⁵, Katta M Girisha¹, Anju Shukla¹

Affiliations

¹ Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
² Department of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
³ Department of Paediatrics, A.J. Institute of Medical Sciences and Research Centre, Mangalore, India.
⁴ Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
⁵ Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

No abstract available

Publication types

Case Reports
Review

MeSH terms

Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor / deficiency
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor / genetics*
Developmental Disabilities / diagnostic imaging
Developmental Disabilities / enzymology
Developmental Disabilities / genetics*
Developmental Disabilities / pathology
Exome Sequencing
Exons
Gene Expression
Homozygote
Humans
Magnetic Resonance Imaging
Microcephaly / diagnostic imaging
Microcephaly / enzymology
Microcephaly / genetics*
Microcephaly / pathology
Muscle Spasticity / diagnostic imaging
Muscle Spasticity / enzymology
Muscle Spasticity / genetics*
Muscle Spasticity / pathology
Mutation*

Substances

Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor
ASNS protein, human

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