Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus
نویسندگان
1 Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
2 Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
3 Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
4 Molecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London SW17 0RE, UK
5 Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
6 Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran.
7 Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
doi
10.22038/ijp.2022.62028.4762چکیده
Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark.Method: In this case report, we describe an Iranian 6-year-old male who was diagnosed with ICF syndrome. He had a history of recurrent infections, hydrocephalus report in pregnancy, failure to thrive, facial anomalies, global developmental delay, and umbilical hernia.Results: The investigation showed esophageal dilatation in barium swallow, ascending aortic dilatation in echocardiography and cutis laxa in skin biopsy. In laboratory data, impaired antibody function was observed. Finally, to find the probable causative genetic variant, a whole exome sequencing was performed. The data analysis using bioinformatics tools revealed c.1592G>A mutation in the exon 15 of DNMT3B. With respect to the diagnosis of ICF syndrome, our patient was treated with intravenous immunoglobulin (IVIG).Conclusion: It is necessary to perform periodic neurologic and ophthalmologic examinations. Echocardiography must be done annually. In addition, the possibility of HSCT should be evaluated
