E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report
Online Published: 01 Jan 2019
 


Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.

Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak.


Abstract
Background: A very few diseases are reported caused due to cerebellar hypoplasia and neuronal migration defects like pachygyria. Cerebellar Ataxia, mental retardation, and Dysequilibrium Syndrome 1 (DES) (OMIM # 224050) are one among such group of diseases. DES is caused due to a homozygous mutation in the VLDLR gene involved majorly in neuronal migration.
Case Presentation: Two members (siblings) from a Turkish family presented with neuromotor developmental delay, moderate learning disability, delayed psychosocial development and strabismus complaints. Whole exome sequencing (WES) was performed as consanguinity existed between the parents and specific pre-diagnosis could not provide a satisfactory conclusion for the patients. WES revealed a homozygote novel mutation in the VLDLR gene.
Conclusion: Evaluation of WES data resembled a process of finding a needle in a haystack; therefore, the present study recommended clinical information and anamnesis to be very important in understanding and interpreting the WES result.

Key words: VLDL receptor, dysequilibrium syndrome, pachygyria


 
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How to Cite this Article
Pubmed Style

Elmas M, Gogus B, Oflu AT, Bukulmez A, Elmas E, Solak M. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBCGenetics. 2019; 2(1): 77-80. doi:10.24911/JBCGenetics/183-1546931990


Web Style

Elmas M, Gogus B, Oflu AT, Bukulmez A, Elmas E, Solak M. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. https://www.jbcgenetics.com/?mno=25159 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1546931990


AMA (American Medical Association) Style

Elmas M, Gogus B, Oflu AT, Bukulmez A, Elmas E, Solak M. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBCGenetics. 2019; 2(1): 77-80. doi:10.24911/JBCGenetics/183-1546931990



Vancouver/ICMJE Style

Elmas M, Gogus B, Oflu AT, Bukulmez A, Elmas E, Solak M. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBCGenetics. (2019), [cited November 14, 2024]; 2(1): 77-80. doi:10.24911/JBCGenetics/183-1546931990



Harvard Style

Elmas, M., Gogus, . B., Oflu, . A. T., Bukulmez, A., Elmas, E. & Solak, . M. (2019) Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBCGenetics, 2 (1), 77-80. doi:10.24911/JBCGenetics/183-1546931990



Turabian Style

Elmas, Muhsin, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, and Mustafa Solak. 2019. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. Journal of Biochemical and Clinical Genetics, 2 (1), 77-80. doi:10.24911/JBCGenetics/183-1546931990



Chicago Style

Elmas, Muhsin, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, and Mustafa Solak. "Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.." Journal of Biochemical and Clinical Genetics 2 (2019), 77-80. doi:10.24911/JBCGenetics/183-1546931990



MLA (The Modern Language Association) Style

Elmas, Muhsin, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, and Mustafa Solak. "Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.." Journal of Biochemical and Clinical Genetics 2.1 (2019), 77-80. Print. doi:10.24911/JBCGenetics/183-1546931990



APA (American Psychological Association) Style

Elmas, M., Gogus, . B., Oflu, . A. T., Bukulmez, A., Elmas, E. & Solak, . M. (2019) Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. Journal of Biochemical and Clinical Genetics, 2 (1), 77-80. doi:10.24911/JBCGenetics/183-1546931990





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