Open AccessFurther delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
Author(s) -
Taghdiri Maryam,
Kashef Atie,
Abbassi Golemaryam,
Moshtagh Azadeh,
Sadatian Neda,
Fardaei Majid,
Najafi Kimia,
Kariminejad Roxana
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2020
Subject(s) - ionotropic effect , cerebellar ataxia , medicine , phenotype , cerebellum , ataxia , gene , genetics , mutation , nystagmus , glutamate receptor , receptor , biology , audiology , psychiatry
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.