Author/Authors :
Alaei, Mohammad Reza Department of Pediatric Endocrinology and Metabolism - Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Kheirkhahan, Meghdad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Talebi, Saeed Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Davoudi -Dehaghani, Elham Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran, Tehran, Iran , Keramatipour, Mohammad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran
Abstract :
Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and next-generation sequencing were used to examine genes related to MPS and GA. Sanger sequencing was performed to confirm the results. Results: Two homozygous likely pathogenic variants in α-N-acetylglucosaminidase (NAGLU) and GCDH genes were found and confirmed in the proband. Conclusion: A combination of specific features of two different diseases in a patient has been reported here. More studies on this case and similar cases can provide more information about the effect of simultaneous pathogenic variants in different genes.
