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

Abstract

Background:
Certain mutations in the PRSS12 gene were linked to non-syndromic autosomal recessive form of intellectual disability.
Objective:
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.
Methods:
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.
Results:
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.
Conclusion:
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.

Published
2022-09-14
Section
Articles

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eISSN: 1015-8618
print ISSN: 1992-2647