Alexander Disease - Europe PMC

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Introduction Alexander disease is a rare leukodystrophy with an autosomal dominant inheritance pattern. AxD is a unique disease that causes AxD, and this research will identify a novel variant that causes AxD and collect all of the related variants in juvenile and adult-onset as well. We present a 2-year-old female with infantile AxD. Met73Val was discovered in our case by whole-exome sequencing. In these studies, 303 patients clinically diagnosed with juvenile or adult-onset forms of an alteration of GFAP, among which 212 patients were identified with a juvenile or adult-onset form carrier of an alteration of an alteration in GFAP. Conclusions This review emphasized the importance of genetics in AxD diagnosis. In addition, it helps to expand the genetic profile of Iranian patients with AxD.

Source link: https://europepmc.org/article/MED/36088400

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