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Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-...

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Autores principales: Jezela-Stanek, Aleksandra, Blaz, Witold, Gora, Artur, Bochenska, Malgorzata, Kusmierska, Katarzyna, Sykut-Cegielska, Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602273/
https://www.ncbi.nlm.nih.gov/pubmed/33066491
http://dx.doi.org/10.3390/diagnostics10100821
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author Jezela-Stanek, Aleksandra
Blaz, Witold
Gora, Artur
Bochenska, Malgorzata
Kusmierska, Katarzyna
Sykut-Cegielska, Jolanta
author_facet Jezela-Stanek, Aleksandra
Blaz, Witold
Gora, Artur
Bochenska, Malgorzata
Kusmierska, Katarzyna
Sykut-Cegielska, Jolanta
author_sort Jezela-Stanek, Aleksandra
collection PubMed
description (1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to date. (2) Methods: Our paper aimed to delineate the disease genotype by presenting another patient, in whom a novel, in-frame variant within the MOCS2 gene was identified. (3) Results: Exome sequencing led to the identification of a novel variant in the MOCS2 gene-c.472_477del of unknown significance (VUS). (4) Conclusions: To prove the clinical significance of the mentioned variant, analysis of the possible mutation consequences on molecular level with the use of the available crystal structure of the human molybdopterin synthase complex was of great importance. Moreover, a potential pathomechanism resulting from a molecular defect was presented, giving original insight into the current knowledge on this rare disease, including treatment options.
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spelling pubmed-76022732020-11-01 Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene Jezela-Stanek, Aleksandra Blaz, Witold Gora, Artur Bochenska, Malgorzata Kusmierska, Katarzyna Sykut-Cegielska, Jolanta Diagnostics (Basel) Communication (1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to date. (2) Methods: Our paper aimed to delineate the disease genotype by presenting another patient, in whom a novel, in-frame variant within the MOCS2 gene was identified. (3) Results: Exome sequencing led to the identification of a novel variant in the MOCS2 gene-c.472_477del of unknown significance (VUS). (4) Conclusions: To prove the clinical significance of the mentioned variant, analysis of the possible mutation consequences on molecular level with the use of the available crystal structure of the human molybdopterin synthase complex was of great importance. Moreover, a potential pathomechanism resulting from a molecular defect was presented, giving original insight into the current knowledge on this rare disease, including treatment options. MDPI 2020-10-14 /pmc/articles/PMC7602273/ /pubmed/33066491 http://dx.doi.org/10.3390/diagnostics10100821 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Communication
Jezela-Stanek, Aleksandra
Blaz, Witold
Gora, Artur
Bochenska, Malgorzata
Kusmierska, Katarzyna
Sykut-Cegielska, Jolanta
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title_full Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title_fullStr Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title_full_unstemmed Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title_short Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
title_sort proteins structure models in the evaluation of novel variant (c.472_477del) in the mocs2 gene
topic Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602273/
https://www.ncbi.nlm.nih.gov/pubmed/33066491
http://dx.doi.org/10.3390/diagnostics10100821
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