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

Aicardi–Goutières’ syndrome (AGS) is a rare heterogeneousgenetic disorder characterized by encephalopathy and maybear resemblance to congenital infections. The prevalence ofAGS is estimated at more than ۴,۰۰۰ worldwide. Mutations inTREX۱ gene are present in ۲۲% of patients. We present thecase of a ۲-year-old boy who came to the Biogene laboratory(Tehran, Iran) with a constellation of congenital disorders butno clear diagnosis. His clinical phenotype consisted of neonataljaundice, relative microcephaly with diffuse cerebral atrophyin both hemispheres, developmental delay, hypotonia, andnystagmus. There was history of parental consanguineous marriageand prematurity. In our study, a homozygous potentiallypathogenic mutation in TREX۱ gene associated with AGS۱was detected. This mutation has not been reported in the otherpatients with AGS. A novel frameshift homozygous potentiallypathogenic mutation in TREX۱ is postulated to be the cause ofdisease in our patient.

کلیدواژه ها:

Aicardi–Goutières’ syndrome ، TREX۱ gene ، novelmutation ، Sanger sequencing