Article
The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.
American journal of medical genetics. Part A - 1 Jun 2025
Ouhenach Mouna, Nada Amllal, Lyahyai Jaber, Sefiani Abdelaziz
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a hereditary encephalopathy characterized by marked clinical variability, mainly cerebral calcifications, cerebral atrophy, and leukodystrophy. The clinical diagnosis is difficult and can lead to high mortality. To date, nine genes are implicated, including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR1, IFIH1, LSM11, and RNU7-1. However, the p.A177T (c.529G>A) RNASEH2B...
Topics
- Humans
- Male
- Female
- Autoimmune Diseases of the Nervous System
- Ribonuclease H
- Nervous System Malformations
- Morocco
- Child, Preschool
- Child
- Genetic Testing
- Adolescent