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

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, pre...

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Bibliographic Details
Published in:Journal of Biochemical and Clinical Genetics 2020-06, Vol.3 (1), p.41-44
Main Authors: Elmas, Muhsin, Yildirim, Umit, Cavusoglu, Dilek, Tahta, Evrim, Elmas, Ebru, Sen, Tolga, Bukulmez, Aysegul
Format: Article
Language:English
Subjects:
dna mutational analysis
genetic heterogeneity
intellectual disability
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Summary: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. [JBCGenetics 2020; 3(1.000): 41-44]
ISSN:1658-807X
DOI:10.24911/JBCGenetics/183-1579263463