JBCGenetics |

Case Report

Volume: 6 | Issue: 2 | Published: Sep 16, 2023 | Pages: 144 - 148 | DOI: 10.24911/JBCGenetics/183-1677940397

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

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

Article Info

Authors

Fahrettin Duymus

Konya City Hospital, Department of Medical Genetics, Konya, Turkey

ORCID

Banu Bozkurt

Selcuk University Faculty of Medicine, Department of Ophthalmology, Konya, Turkey

Ali Sahin

Selcuk University Faculty of Medicine, Medical Students, Konya, Turkey

Huseyin Babayev

Selcuk University Faculty of Medicine, Medical Students, Konya, Turkey

Sibel Ersoy Evans

Hacettepe University Faculty of Medicine, Department of Dermatology, Ankara, Turkey

Betul Saylik

Selcuk University Faculty of Medicine, Department of Ophthalmology, Konya, Turkey

Tulin Cora

Selcuk University Faculty of Medicine, Department of Medical Genetics, Konya, Turkey

Publication History

Received: March 04, 2023

Revised: August 01, 2023

Accepted: August 07, 2023

Published: September 16, 2023

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.

Keywords: Piebaldism, KIT Gene, Congenital Cataract, Aphakic Glaucoma, Molecular Dynamics, Case report

Pubmed Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBC Genetics. 2023; 16 (September 2023): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Web Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. https://www.jbcgenetics.com/articles/2096 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1677940397

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBC Genetics. (2023), [cited April 27, 2025]; 16 (September 2023): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Harvard Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora (2023) Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. JBC Genetics, 16 (September 2023): 144-148. doi:10.24911/JBCGenetics/183-1677940397

Chicago Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora. "Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma." 16 (2023), 144-148. doi:10.24911/JBCGenetics/183-1677940397

MLA (The Modern Language Association) Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora. "Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma." 16.September 2023 (2023), 144-148. Print. doi:10.24911/JBCGenetics/183-1677940397

APA (American Psychological Association) Style

Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora (2023) Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma. , 16 (September 2023), 144-148. doi:10.24911/JBCGenetics/183-1677940397