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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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
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
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
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
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
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
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
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
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