Case Report
Volume: 3 | Issue: 1 | Published: Apr 26, 2020 | Pages: 41 - 44 | DOI: 10.24911/JBCGenetics/183-1579263463
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
Article Info
Authors
Muhsin Elmas
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Umit Can Yildirim
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Dilek Cavusoglu
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Evrim Gurhan Tahta
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Ebru Elmas
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Tolga Altug Sen
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Aysegul Bukulmez
Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Publication History
Received: January 17, 2020
Revised: March 09, 2020
Accepted: April 07, 2020
Published: April 26, 2020
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
