INTEGRIN BETA2 GENE VARIANT CAUSING LEUKOCYTE ADHESION DEFICIENCY TYPE 1 IN A PAKISTANI FAMILY

Authors

  • Rabea Nasir M. Islam Medical College, Gujranwala, Pakistan
  • Sheeba Shabbir Department of Forensic Sciences, HBS Medical & Dental College, Islamabad, Pakistan
  • Lubna Siddique Department of Physiology, Rawal Institute of Health Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan
  • Shahida Awais Department of Physiology, Fazaia Medical College, Air University, Islamabad, Pakistan
  • Zara Khalid Department of Biochemistry, Rawal Institute of Health Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan
  • Ambreen Zahoor Department of Medicine, HBS Medical & Dental College, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan
  • Zahid Azeem Department of Biochemistry, AJK Medical College, Muzaffarabad, Pakistan
  • Farzana Majeed Department of Physiology, HBS Medical & Dental College, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

Keywords:

Genetic Study, Whole Exome Sequencing, Sanger Sequencing, Leukocyte Adhesion Deficiency, Flowcytometery

Abstract

Background: Leukocyte adhesion deficiency type 1 (LAD1), an autosomal recessive condition, arises from partial or complete deficiency of CD18 expression. LAD1 patients commonly manifest recurrent skin and respiratory tract infections, delayed umbilical cord separation, and impaired wound healing due to hindered leukocyte migration. This study aims to clinically and molecularly diagnose LAD in a highly consanguineous Pakistani family, investigating a recurrent mutation within the integrin ?2 (ITGB2) gene. Methods: A comprehensive clinical and molecular diagnosis of LAD1 was made in on a patient from a consanguineous Pakistani family. Lymphocyte subset analysis was performed using a flow cytometer, followed by whole exome sequencing and DNA Sanger sequencing to identify the pathogenic mutation within the ITGB2 gene. Further to provide genetic counselling all the healthy siblings were also Sanger sequenced. Results: Flow cytometry indicated CD18 deficiency, while sequencing of the ITGB2 gene unveiled a nonsense mutation, c.186C>A, p. (Cys62*), located in exon four. This mutation segregates in an autosomal recessive pattern within the family. Conclusion: A mutation c.186C>A (Cys62*) in a patient of LAD1 was identified which is potentially pathogenic in nature.

Pak J Physiol 2024;20(1):15-8

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References

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Published

31-03-2024

How to Cite

1.
Nasir R, Shabbir S, Siddique L, Awais S, Khalid Z, Zahoor A, et al. INTEGRIN BETA2 GENE VARIANT CAUSING LEUKOCYTE ADHESION DEFICIENCY TYPE 1 IN A PAKISTANI FAMILY. Pak J Phsyiol [Internet]. 2024 Mar. 31 [cited 2024 May 23];20(1):15-8. Available from: https://pjp.pps.org.pk/index.php/PJP/article/view/1614