Author/Authors :
Moody ، Mehrnoosh Department of Biology - Faculty of Science - Islamic Azad University, Science and Research Branch , Hosseini ، Mojgan Department of Science - Islamic Azad University, Islamshahr Branch , Deezagi ، Abdolkhalegh Department of Molecular Medicine and Biochemistry - National Institute of Genetic Engineering and Biotechnology , Yaghmaei ، Parichehreh Department of Biology - Faculty of Science - Islamic Azad University, Science and Research Branch , Houshmand ، Massoud Medical Genetics Department - National Institute of Genetic Engineering Biotechnology
Abstract :
Background: Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme causes the conversion of uridine diphosphate- glucose (UDP)-glucose and galactose-1-phosphate (Gal-1-P) to glucose-1-phosphate and UDP-galactose. The absence of this enzyme results in the accumulation of the metabolites galactitol and Gal-1-P. The CG is heterogeneous at clinical and molecular levels. Objectives: This study provides some data for the investigation of the introduction of new mutations of the GALTgene that involved the cause of galactosemia in the Iranian population. Methods: In this cross-sectional study, 31 newborns diagnosed with galactosemia were investigated for the mutations of the GALTgene in Tehran province, Iran, from March 2014 to December 2019. The polymerase chain reaction sequencing method was used to analyze the GALTgene. Results: The sequence results showed 11 pathogenic mutations on the GALTgene, including five mutations in exon 10, two mutations in exon 9, two mutations in exon 5, one mutation in exon 6, and one mutation in exon 7. Moreover, six new mutations of the GALTgene were identified in the Iranian population, namely c.442C T (R148W), c.881T A (F294Y), c.997C T (R333W), c.940A G (N314D), c.1030C A (Q344K), and c.1018G A (E340K). Other mutations identified in this study were c.563A G (Q188R), c.855G T (K285N), c.626A C (Y209S), c.404C T (S135L), and c.958G A (A320T). The most common mutations in this study were p.Q188R (51.6%), K285N (9.67%), E340K (9.67%), and R148W (6.45%). Conclusions: This study identified 11 different pathogenic mutations of the GALTgene in the Iranian population with galactosemia. The identification of the mutations involved in the development of CG in the Iranian population can play an important role in early diagnosis and intervention. The GALTgene mutations identified in this study can be used as screening markers to identify Iranian children with CG.
Keywords :
Classic Galactosemia , GALTGene Mutation , Iranian Population , Screening Markers
