POLR3A variants in striatal involvement without diffuse hypomyelination

Biallelic variants in POLR3A encoding the largest subunit of RNA polymerase III cause POLR3-related (or 4H) leukodystrophy characterized by neurologic dysfunction, abnormal dentition, endocrine abnormalities and ocular abnormality. Recently, whole-exome sequencing enabled the discovery of POLR3A variants in cases lacking diffuse hypomyelination, the principal MRI phenotype of POLR3-related leukodystrophy. Homozygous c.1771-6C  > G variants in POLR3A were recently suggested to cause striatal and red nucleus involvement without white matter involvement.

Source: Brain and Development - January 12, 2020 Category: Neurology Authors: Takuya Hiraide, Kazuo Kubota, Yu Kono, Seiji Watanabe, Tomoko Matsubayashi, Mitsuko Nakashima, Tadashi Kaname, Toshiyuki Fukao, Nobuyuki Shimozawa, Tsutomu Ogata, Hirotomo Saitsu Tags: Case Report Source Type: research