Novel gene mutation of molybdenum cofactor deficiency

Abstract

Molybdenum cofactor deficiency is a rare metabolic condition characterized by brain dysfunction (encephalopathy) that worsens over time. Molybdenum cofactor deficiency is caused by mutations in the ΜΟSC1, ΜΟSC2, or GPHN gene. There are three forms of the disorder, named types A, B, and C. The forms have the same signs and symptoms but are distinguished by their genetic cause: ΜΟSC1 gene mutations cause type A, ΜΟSC2 gene mutations cause type B, and GPHN gene mutations cause type C. Herein we are reporting a 2 months old child who presented to our hospitals with seizure disorders, post cardiac arrest. After clinical evaluation, and thorough investigations, uric acid was undetectable. MRI brain showed periventricular leukomalacia- HIE picture, with bilateral frontal lobe white matter loss with extensive cystic formation and thinning of corpus callosum. Molecular genetic testing showed pathogenic deletion c.604_624del p.( Gly202_glu208del) in exon 4 of MOCS1 gene in homozygous state. to best of our knowledge this variant was not yet reported in any literature yet.