Detection of in rs876657372 (delACGT) in PRSS12 gene, risk factors and associated congenital abnormalities in non-syndromic intellectual disability-case control study.

  • Ebtihal Esmail
  • Lamia Mekkawi
  • Mona Ellaithi
Keywords: PRSS12 gene, non-syndromic intellectual disability, DelACGT, psychomotor delay, rs876657372


Certain mutations in the PRSS12 gene were linked to non-syndromic autosomal recessive form of intellectual disability.
Here we wanted to find out whether delACGT (rs876657372) is associated with non-syndromic intellectual disability (NS-ID) in Sudanese and what possible risk factors might cause the disability.
The study included 30 patients with NS-ID and 30 healthy controls. The intelligence quotient (IQ) level, the degree of consanguinity of the parents, the family history of intellectual disability (ID), exposure to X-rays, bacterial or viral infections, smoking and the use of medication during pregnancy were all measured. We also examined the possible associated congenital anomaly.
The ratio of men to women was 3:2 with an average age of 15 years for both study groups. The degree of ID varied from moderate to severe in the patient group. In addition, 57% of the patients had consanguineous parents. Furthermore, patients‘ mothers were more exposed to the risk factors than the control group. The patients‘ families had a history of ID more than the control group. In addition, psychomotor delay seemed to be a common congenital abnormality in the patient group. Single Nucleotide Polymorphism (SNP) analysis revealed that only two patients were heterozygous delACGT. None in the control group exhibited the mutation.
None of the risk factors tested were associated with NS-ID. The heterozygous DelACGT was not associated with NS-ID. We speculate that the causes of NS-ID may be correlated with complex environmental and hereditary factors.


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eISSN: 1015-8618
print ISSN: 1992-2647