Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1716910
Case Report

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

1  Department of Metabolomics and Genomics, Metabolomics and Genomics Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
,
Mohammad Moarefzadeh
2  Department of Clinical Sciences, School of Medicine, Lorestan University of Medical Sciences, Lorestan, Iran
,
Hamideh Alavi-Moghaddam
3  Department of Emergency, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
,
Saeid Morovvati
4  Department of Human Genetics, Baqiyatallah University of Medical Sciences, Tehran, Iran
› Author Affiliations

Abstract

Aicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.



Publication History

Received: 06 January 2020

Accepted: 17 August 2020

Publication Date:
21 September 2020 (online)

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Stuttgart · New York