Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency

Mat Ripen A; Ghani H; Chear CT; Chiow MY; Syed Yahya SNH; Kassim A; Mohamad SB

doi:10.1177/2050312120922652

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Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency

Mat Ripen A ¹ , Ghani H ² , Chear CT ¹ , Chiow MY ² , Syed Yahya SNH ¹ , Kassim A ³ Show all authors , Mohamad SB ²

Affiliations

¹ Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Kuala Lumpur, Malaysia
² Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia
³ Paediatric Institute, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur, Malaysia

SAGE Open Med, 2020;8:2050312120922652.

PMID: 32547748 DOI: 10.1177/2050312120922652

Abstract

Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients.

Methods: Lymphocyte subset enumeration test and whole exome sequencing were performed.

Results: We identified a compound heterozygous CR2 mutation (c.1916G>A and c.2012G>A) in both patients. These variants were then confirmed using Sanger sequencing.

Conclusion: Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in CR2.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.