Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient. Issue 6 (4th May 2019)

• Record Type: Journal Article
• Authors: Taghdiri, Maryam; Kashef, Atie; Abbassi, Golemaryam; Moshtagh, Azadeh; Sadatian, Neda; Fardaei, Majid; Najafi, Kimia; Kariminejad, Roxana
• Is Part Of: Clinical case reports. Volume 7:Issue 6(2019)
• Page Start: 1149
• Page End: 1153
• Publication Date: 2019-05-04
• Subjects: cerebellar ataxia -- cerebellar atrophy -- deletion of GRID2 -- developmental delay -- oligo array CGH; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2020
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.