Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 77 - 80 | DOI: 10.24911/JBCGenetics/183-1546931990
Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
Authors: Muhsin Elmas , Basak Gogus , Ayse Tolunay Oflu , Aysegul Bukulmez , Ebru Elmas , Mustafa Solak
Article Info
Authors
Muhsin Elmas
Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Basak Gogus
Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Ayse Tolunay Oflu
Pediatric Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Aysegul Bukulmez
ediatric Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Ebru Elmas
Pediatric Department, Afyonkarahisar Public Hospital, Afyonkarahisar, Turkey
Mustafa Solak
Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Publication History
Received: October 08, 2018
Accepted: March 23, 2019
Published: January 01, 2019
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.
Keywords: VLDL receptor, dysequilibrium syndrome, pachygyria
Pubmed Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBC Genetics. 2019; 01 (January 2019): 77-80. doi:10.24911/JBCGenetics/183-1546931990
Web Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. https://www.jbcgenetics.com/index.php/articles/2174 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1546931990
AMA (American Medical Association) Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBC Genetics. 2019; 01 (January 2019): 77-80. doi:10.24911/JBCGenetics/183-1546931990
Vancouver/ICMJE Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 77-80. doi:10.24911/JBCGenetics/183-1546931990
Harvard Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak (2019) Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. JBC Genetics, 01 (January 2019): 77-80. doi:10.24911/JBCGenetics/183-1546931990
Chicago Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. "Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.." 01 (2019), 77-80. doi:10.24911/JBCGenetics/183-1546931990
MLA (The Modern Language Association) Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak. "Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.." 01.January 2019 (2019), 77-80. Print. doi:10.24911/JBCGenetics/183-1546931990
APA (American Psychological Association) Style
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak (2019) Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.. , 01 (January 2019), 77-80. doi:10.24911/JBCGenetics/183-1546931990