Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases

• Published in: Gene Vol. 704; pp. 97 - 102
• Main Authors: Radha Rama Devi, Akella, Naushad, Shaik Mohammad
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.07.2019
• Subjects: ASNS gene; Asparagine synthetase deficiency; In silico characterization; Microcephaly; SD; ASNS gene; ExAC; EEG; ASNS; TMS; Microcephaly; In silico characterization; Asparagine synthetase deficiency

In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p.S263F) and both the children presented with microcephaly and one of them had sever...