First report of novel mutation (c.790del) on gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.
作者信息
Jalali Hossein, Khoshaeen Atefeh, Mahdavi Mohammad Reza, Mahdavi Mahan
机构信息
Thalassemia Research Center, Hemoglobinopathies Institute Mazandaran University of Medical Sciences Sari Iran.
Sinayemehr Research Center Mazandaran University Sari Iran.
出版信息
Clin Case Rep. 2022 Aug 9;10(8):e6203. doi: 10.1002/ccr3.6203. eCollection 2022 Aug.
Abstract
SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia, and gaze palsy.
摘要
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