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

doi:10.3390/diagnostics10100821

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

Aleksandra Jezela-Stanek

^1,*,†

^2,†,

⁴,

⁵ and

Jolanta Sykut-Cegielska

⁵

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland

Clinical Department of Neonatology and NICU, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, Poland

Tunneling Group, Biotechnology Centre, Silesian University of Technology, 44-100 Gliwice, Poland

⁴

Clinical Department of Pediatric Neurology, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, Poland

⁵

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland

Author to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

Diagnostics 2020, 10(10), 821; https://doi.org/10.3390/diagnostics10100821

Received: 7 September 2020 / Revised: 10 October 2020 / Accepted: 12 October 2020 / Published: 14 October 2020

(This article belongs to the Section Pathology and Molecular Diagnostics)

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Abstract

(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. View Full-Text

Keywords: molybdenum cofactor deficiency type B; MOCS2 gene; crystal protein structure

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MDPI and ACS Style

Jezela-Stanek, A.; Blaz, W.; Gora, A.; Bochenska, M.; Kusmierska, K.; Sykut-Cegielska, J. Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene. Diagnostics 2020, 10, 821. https://doi.org/10.3390/diagnostics10100821

AMA Style

Jezela-Stanek A, Blaz W, Gora A, Bochenska M, Kusmierska K, Sykut-Cegielska J. Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene. Diagnostics. 2020; 10(10):821. https://doi.org/10.3390/diagnostics10100821

Chicago/Turabian Style

Jezela-Stanek, Aleksandra, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, and Jolanta Sykut-Cegielska. 2020. "Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene" Diagnostics 10, no. 10: 821. https://doi.org/10.3390/diagnostics10100821

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

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