Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the <i>MOCS2</i> Gene

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the <i>MOCS2</i> Gene

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 <i>MOCS2</i> gene in an a...

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Bibliographic Details
Main Authors: Maria Tofilo, Natalia Voronova, Leila Nigmatullina, Elena Kuznetsova, Valeria Timonina, Bogdan Efimenko, Oybek Turgunkhujaev, Svetlana Avdeichik, Muhammad Ansar, Konstantin Popadin, Anastasia Kirillova, Ilya Mazunin
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
<i>MOCS2</i> gene
Ohtahara syndrome
PGT-M
mtDNA relatives
consanguinity
maternal ancestry
Online Access:https://www.mdpi.com/2073-4425/14/3/720

Internet

https://www.mdpi.com/2073-4425/14/3/720

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