Article
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.
Genes - 15 Mar 2023
Tofilo Maria, Voronova Natalia, Nigmatullina Leila, Kuznetsova Elena, Timonina Valeria, Efimenko Bogdan, Turgunkhujaev Oybek, Avdeichik Svetlana, Ansar Muhammad, Popadin Konstantin, Kirillova Anastasia, Mazunin Ilya
Abstract excerpt
Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected child, diagnosed with Ohtahara syndrome according to the clinical manifestations. The analysis of the three-dimensional...
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