Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma

Fahrettin Duymus; Banu Bozkurt; Ali Sahin; Huseyin Babayev; Sibel Ersoy Evans; Betul Saylik; Tulin Cora

doi:10.24911/JBCGenetics/183-1677940397

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Case Report

Online Publishing Date:
16 / 09 / 2023

JBCGenetics. 2023; 6(2): 144-148

doi: 10.24911/JBCGenetics/183-1677940397

Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora.

Abstract
Background: Piebaldism (OMIM #172800) is a rare autosomal dominant genodermatosis characterized by congenital poliosis and stable patches of leucoderma. Piebaldism is caused by mutations in the KIT and SNAI2 genes. The most common mutations are detected in the KIT gene.
Case presentation: A 5-year-old boy, who was followed-up for aphakic glaucoma after congenital cataract surgery, was consulted to the medical genetics and dermatology departments due to premature graying of the hair, white forelock in the frontal region of the scalp, whitening in the inner part of the eyebrows and eyelashes and patchy leukoderma with hyperpigmented islands inside on the extremities and trunk. DNA sequencing revealed a heterozygous missense c.1861G>A mutation in the KIT gene. Mutation was evaluated using in silico 3D-structure analysis and bioinformatics tools
Conclusion: KIT gene has a critical role in melanoblast migration, proliferation, differentiation and survival and molecular dynamics simulation and modeling proved that this variant inhibits the migration of melanoblasts and melanocytes by reducing the enzymatic activity of the KIT protein.

Key words: Piebaldism, KIT Gene, Congenital Cataract, Aphakic Glaucoma, Molecular Dynamics, Case report.

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How to Cite this Article

Pubmed Style

Duymus F, Bozkurt B, Sahin A, Babayev H, Evans SE, Saylik B, Cora T. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBCGenetics. 2023; 6(2): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Web Style

Duymus F, Bozkurt B, Sahin A, Babayev H, Evans SE, Saylik B, Cora T. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. https://www.jbcgenetics.com/?mno=145394 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1677940397

AMA (American Medical Association) Style

Duymus F, Bozkurt B, Sahin A, Babayev H, Evans SE, Saylik B, Cora T. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBCGenetics. 2023; 6(2): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Vancouver/ICMJE Style

Duymus F, Bozkurt B, Sahin A, Babayev H, Evans SE, Saylik B, Cora T. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBCGenetics. (2023), [cited March 14, 2024]; 6(2): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Harvard Style

Duymus, F., Bozkurt, . B., Sahin, . A., Babayev, . H., Evans, . S. E., Saylik, . B. & Cora, . T. (2023) Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBCGenetics, 6 (2), 144-148. doi:10.24911/JBCGenetics/183-1677940397

Turabian Style

Duymus, Fahrettin, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, and Tulin Cora. 2023. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. Journal of Biochemical and Clinical Genetics, 6 (2), 144-148. doi:10.24911/JBCGenetics/183-1677940397

Chicago Style

Duymus, Fahrettin, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, and Tulin Cora. "Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma." Journal of Biochemical and Clinical Genetics 6 (2023), 144-148. doi:10.24911/JBCGenetics/183-1677940397

MLA (The Modern Language Association) Style

Duymus, Fahrettin, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, and Tulin Cora. "Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma." Journal of Biochemical and Clinical Genetics 6.2 (2023), 144-148. Print. doi:10.24911/JBCGenetics/183-1677940397

APA (American Psychological Association) Style

Duymus, F., Bozkurt, . B., Sahin, . A., Babayev, . H., Evans, . S. E., Saylik, . B. & Cora, . T. (2023) Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. Journal of Biochemical and Clinical Genetics, 6 (2), 144-148. doi:10.24911/JBCGenetics/183-1677940397

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