FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center
Year: 2022
Type: article
Abstract: Background: Mutation occurring in fragile X mental retardation 1 (FMR1) gene is acknowledged as the most common cause for X chromosome linked intellectual disability/mental retardation (XLID/XLMR). This gene harbors unstable CGG triplet repeats within its 5'UTR (untranslated region). Loss of function of the FMR1, which is mostly due to the hypermethylation of the CpG islands on its promoter region, causes fragile X syndrome (FXS). Displaying different frequencies, the FXS is a common phenomenon all over the world, the studies focus mostly on the Caucasian population.
Source: Gazi Medical Journal
DOI: 10.12996/gmj.2022.83
Authors: YUNUS ARIKAN, Turker Bilgen, Ercan Mihci, Ozgur Duman, Tugba Karaman, Ibrahim Keser
Institution: Yozgat Bozok Üniversitesi
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4294569361