Document Type : Case report
Authors
1
Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
2
Department of pediatric neurology, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran
3
Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
4
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
5
Next Generation Genetic Polyclinic, Mashhad, Iran. Honorary Researcher, University of Manchester, UK
6
Neuroscience Research Centre, Mashhad University of Medical Sciences, Mashhad, Iran Blood Transfusion Organization, Mashhad, Iran
7
paria22njz@gmail.com
8
Pediatric ward of mashhad university of medical sciences
Abstract
Objective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to similar clinical manifestations. In the present study, we describe a patient with a homozygous variant of uncertain significance (VUS) in the MRE11 gene that was correlated clinically with ATLD.
Methods: We performed a brain MRI scan to find the cause of the patient's ataxia. After ventriculoperitoneal shunting due to obstructive hydrocephalus, there was no clinical change; so, we carried out whole exome sequencing. Additionally, Variants were classified using several databases and predicted according to the ACMG 2015 guidelines.
Results: A 2-year-6-month-old boy with ataxia, tonic seizure, and speech delay was found during studies. The WES and in silico analysis identified a homozygous variant of uncertain significance (VUS) in the MRE11 NM_005591.4 (MRE 11): c.173 G>T (p. GIv58Val).
Conclusion: This case report highlights that genetic testing can be useful for the precise diagnosis when clinical manifestations are not associated with MRI results. Furthermore, we could categorize a variant in the MRE11 gene from VUS to likely pathogenic based on clinical features.
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