A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
Mohammad Jahanpanah,
Diana Mokhtari,
Haleh Mokaber
et al.
Abstract:BackgroundThe ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures.MethodClinical characteristics of the patient were collected. Exome sequencing was used for the identification of variants. Sanger sequencing was used to confirm the variant in the… Show more
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