Case Report
JBCGenetics. 2020; 3(1): 41-44

Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5

Authors: Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1579263463

Abstract

Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, presented with mental retardation, lack of speech, autistic behavior, and selfmutilation. And the younger one, a 6-month old girl, presented with growth retardation, dysmorphic face, and strabismus. We used next generation sequencing for our definitive diagnoses and followed a path from genotype to phenotype. Conclusion: We found homozygous changes in DGUOK (NM_080916.2 c.566T>G) and HPS5 (NM_181507.1 c.219G>A) genes in the siblings. In the literature review, we did not find any article that investigates two different autosomal recessive disorders in two siblings. On this aspect, we present a different approach.

Keywords:   Intellectual disability, genetic heterogeneity, DNA mutational analysis


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Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5


Authors
Muhsin Elmas
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Umit Can Yildirim
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Dilek Cavusoglu
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Evrim Gurhan Tahta
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Ebru Elmas
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Tolga Altug Sen
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Aysegul Bukulmez
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
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Correspondence to:
. Muhsin Elmas, Medical Genetics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.; drmelmas@gmail.com

Publication history
Received 17 Jan 2020
Revised 09 Mar 2020
Accepted 07 Apr 2020
Published online 26 Apr 2020
Published in print 27 May 2020

How to cite this article

Pubmed Style

Elmas M, Yildirim UC, Cavusoglu D, Tahta EG, Elmas E, Sen TA, Bukulmez A. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. JBCGenetics. 2020; 3(1): 41-44. doi:10.24911/JBCGenetics/183-1579263463


Web Style

Elmas M, Yildirim UC, Cavusoglu D, Tahta EG, Elmas E, Sen TA, Bukulmez A. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. https://www.jbcgenetics.com//?mno=82410 [Access: October 27, 2020]. doi:10.24911/JBCGenetics/183-1579263463


AMA (American Medical Association) Style

Elmas M, Yildirim UC, Cavusoglu D, Tahta EG, Elmas E, Sen TA, Bukulmez A. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. JBCGenetics. 2020; 3(1): 41-44. doi:10.24911/JBCGenetics/183-1579263463


Vancouver/ICMJE Style

Elmas M, Yildirim UC, Cavusoglu D, Tahta EG, Elmas E, Sen TA, Bukulmez A. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. JBCGenetics. (2020), [cited October 27, 2020]; 3(1): 41-44. doi:10.24911/JBCGenetics/183-1579263463


Harvard Style

Elmas, M., Yildirim, . U. C., Cavusoglu, . D., Tahta, . E. G., Elmas, . E., Sen, . T. A. & Bukulmez, . A. (2020) Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. JBCGenetics, 3 (1), 41-44. doi:10.24911/JBCGenetics/183-1579263463


Turabian Style

Elmas, Muhsin, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, and Aysegul Bukulmez. 2020. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. Journal of Biochemical and Clinical Genetics, 3 (1), 41-44. doi:10.24911/JBCGenetics/183-1579263463


Chicago Style

Elmas, Muhsin, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, and Aysegul Bukulmez. "Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5." Journal of Biochemical and Clinical Genetics 3 (2020), 41-44. doi:10.24911/JBCGenetics/183-1579263463


MLA (The Modern Language Association) Style

Elmas, Muhsin, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, and Aysegul Bukulmez. "Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5." Journal of Biochemical and Clinical Genetics 3.1 (2020), 41-44. Print. doi:10.24911/JBCGenetics/183-1579263463


APA (American Psychological Association) Style

Elmas, M., Yildirim, . U. C., Cavusoglu, . D., Tahta, . E. G., Elmas, . E., Sen, . T. A. & Bukulmez, . A. (2020) Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5. Journal of Biochemical and Clinical Genetics, 3 (1), 41-44. doi:10.24911/JBCGenetics/183-1579263463


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