Article
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Clinical genetics - 1 Dec 2021
Saida Ken, Tamaoki Junya, Sasaki Masayuki, Haniffa Muzhirah, Koshimizu Eriko, Sengoku Toru, Maeda Hiroki, Kikuchi Masahiro, Yokoyama Haruna, Sakamoto Masamune, Iwama Kazuhiro, Sekiguchi Futoshi, Hamanaka Kohei, Fujita Atsushi, Mizuguchi Takeshi, Ogata Kazuhiro, Miyake Noriko, Miyatake Satoko, Kobayashi Makoto, Matsumoto Naomichi
Abstract excerpt
Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-of-function variants cause neurodevelopmental delay, hypotonia, and cerebellar ataxia. Here, whole-exome analysis revealed compound heterozygous GEMIN5 variants in two...
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