PRSS12 gene was the first gene to be identified as a cause of a non-syndromic autosomal recessive form of intellectual disability (ID). A 4-base pair deletion (delACGT; rs876657372) in the PRSS12 gene has been detected in two different families diagnosed with autosomal recessive non-syndromic intellectual disability (NS-ID). Here we aimed to find out if rs876657372 is associated with NS-ID in Sudanese and the possible risk factors that could be linked the disability.
The study included 60 individuals; 30 were diagnosed with NS-ID and 30 healthy controls. The IQ level, parent's degree of consanguinity, family history of ID, exposure to X-ray, bacterial or viral infection, smoking, and taking of medication during pregnancy were all analyzed as possible risk factors. We also investigated the possible associated congenital abnormality. Restriction fragment length polymorphism method (RFLP) was performed using primers that include the 4 base pair deletion site.
Male to female ratio of 3:2 with a mean age was 15 years for both study groups. The degree of intellectual disability (ID) varies between patients group, however 60% had a moderate ID. Furthermore, 57% of the patients had consanguineous parents. Assessment of risk factors among the patient group showed mothers of the patients were more exposed to risk factors than control group. Patients’ families had history of ID more than the controls; this could indicate the possibility of autosomal recessive ID. Furthermore, Psychomotor delay appeared to be common among the patients group. The SNP analysis revealed that only two patients were heterozygous delACGT; both patients were with moderate ID. None of the control group had the mutation.
Causes of NS-ID could be correlated to certain environmental and hereditary factors. DelACGT is correlated to NS-ID mainly in patients with moderate ID.
Name of the registry
Al-Neelain University Institutional Review Board
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