A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.

Acta neurologica Belgica
Pouria MohammadiMasoud Garshasbi

Abstract

Homozygous or compound heterozygous mutations in the NAD(P)HX epimerase (NAXE) gene, cause early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1. This disorder is characterized by psychomotor regression, hypotonia, ataxia, respiratory insufficiency, tetraparesis, and seizures, leading to coma and death in early childhood. In this study, whole-exome sequencing was used to identify the pathogenic variant, followed by confirmation of identified variant in the proband and segregation analysis in the family by Sanger sequencing. Several in-silico prediction tools were employed to provide additional evidences on the pathogenicity of the identified variant. The proband was an affected 3-year-old boy presented with encephalopathy and developmental regression from Ardebil province, northwest of Iran. Additional clinical features were cognitive regression and a high level of lactate in CSF. The clinical presentation was suggestive of a mitochondrial disorder. In addition, his brother died at the age of 20 months old due to encephalopathy, seizures, developmental regression, and loss of consciousness. We found a novel homozygous missense variant within the NAXE gene, [NM_144772.3:c.565G > A; p.(Gly189Ser)]. ...Continue Reading

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