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

Muhsin Elmas; Umit Can Yildirim; Dilek Cavusoglu; Evrim Gurhan Tahta; Ebru Elmas; Tolga Altug Sen; Aysegul Bukulmez

doi:10.24911/JBCGenetics/183-1579263463

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Case Report
Online Published: 26 Apr 2020

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

doi: 10.24911/JBCGenetics/183-1579263463

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

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

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.

Key words: Intellectual disability, genetic heterogeneity, DNA mutational analysis

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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: November 14, 2024]. 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 November 14, 2024]; 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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