First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

Hossein Jalali; Atefeh Khoshaeen; Mohammad Reza Mahdavi; Mahan Mahdavi

doi:10.1002/ccr3.6203

First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

Clin Case Rep. 2022 Aug 9;10(8):e6203. doi: 10.1002/ccr3.6203. eCollection 2022 Aug.

Authors

Hossein Jalali^{1

2}, Atefeh Khoshaeen², Mohammad Reza Mahdavi¹, Mahan Mahdavi^{2

3}

Affiliations

¹ Thalassemia Research Center, Hemoglobinopathies Institute Mazandaran University of Medical Sciences Sari Iran.
² Sinayemehr Research Center Mazandaran University Sari Iran.
³ Department of Biomedical Engineering, Science and Research Branch Islamic Azad University Tehran Iran.

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.

Keywords: PCR‐sequencing; SQSTM1 gene; progressive cerebellar ataxia.

Publication types

Case Reports