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Subject Area

Cardiology and Vascular Medicine

Article Type

Original Study

Abstract

Objective To evaluate the role of the Aristaless-related homeobox (ARX2) gene to detect cases of nonsyndromic X-linked mental retardation (MR) and genetic counseling of patients and their families to detect possible cases and high risk group. Background MR is a genetic disorder manifested in significantly below average overall intellectual functioning and deficits in adaptive behavior. Patients and methods This study included 50 boys who had an intelligence quotient of less than 70. They were recruited from the pediatrics genetic clinic at El Menoufia University Hospital in the period from October 2015 to April 2017. Their ages ranged between 3 and 16 years. After presenting a written informed consent from parents, all patients have been clinically evaluated and had routine assessment. Results The ages of the included patients ranged between 3 and 16 years, most of them were in the late childhood period (6–12 years), followed by the pubertal period (12–15 years). Regarding the genotypes of ARX2: 16% had full mutation, 12% had premutation and 72% had unexpanded alleles. Distribution of the degree of mentality between genotypes of the studied patients has shown that 63% of patients of full mutation had moderate MR; of the premutation patients 50% had moderate MR; and 69% of the unexpanded allele had moderate MR with highly significant P value = 0.001. Conclusion Diagnosis of ARX gene prevalence should depend on proper selection of cases and sensitive molecular techniques in detecting gene mutations in mentally retarded patients and their relatives to detect full mutation and premutation cases for early diagnosis, intervention, and give proper genetic counseling for patients and their families.

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