Correlation between the 1274 C>T point mutation within the CRBN gene and Intellectual disability

Abstract

Background: Mental retardation, impacting approximately 1-3% of the global populace, stands as a significant medical and societal challenge due to its intricate diagnosis, limited treatment options, and the necessity for continual care throughout an individual’s lifespan. Investigative efforts have revealed the contributory role of specific genetic mutations in the etiology of this condition. Notably, research has identified the 1274 C>T mutation within the CRBN gene as a pertinent factor implicated in the pathogenesis of mental retardation. Aim: This study aims to explore the potential association between 1274 C>T mutations in the CRBN gene and mental retardation. Materials and Methods: Blood samples from 315 individuals were utilized for DNA extraction and subsequent PCR analysis. The PCR products underwent restriction fragment length polymorphism analysis for the R419X mutation, with validation by Sanger sequencing. Results: This study involved a sample comprising 315 individuals from 154 families, with a gender distribution of 61% women (n=192) and 39% men (n=123), and an average age of 38.55±18.55 years. Among the participants, 219 presented non-syndromic intellectual disability, while 96 exhibited syndromic intellectual disability. Within the syndromic group, 226 participants fell under F70, 54 under F71, 22 under F72, and 13 under F73 diagnostic categories. The majority (77.08%, n=74) of individuals with syndromic intellectual disability exhibited mild, while 9.38% (n=9) showed moderate, 5.2% (n=5) presented severe, and 8.33% (n=8) had profound mental retardation. In the non-syndromic group, 63.47% (n=139) displayed mild, 21% (n=46) exhibited moderate, 7.76% (n=17) presented severe, and 7.76% (n=17) had profound mental retardation. Notably, none of the 315 participants had the 1274 C>T missence mutations in the CRBN gene. Conclusions: The findings of this study reveal the absence of the 1274 C>T point mutation within the CRBN gene. This suggests a potential rarity in the distribution of the 1274 C>T mutation among individuals diagnosed with mental retardation within the Mongolian population.