Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Overview

Journal Clin Case Rep

Date 2019 Jun 12

PMID 31183084

Citations 6

Authors

Maryam Taghdiri

Atie Kashef

Golemaryam Abbassi

Azadeh Moshtagh

Neda Sadatian

Majid Fardaei

Kimia Najafi

Roxana Kariminejad

Affiliations

Soon will be listed here.

Abstract

Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia, cerebellar atrophy, nystagmus, and developmental delay with the least amount of intellectual disability.

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