Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants
Eissa, N., Essawi, M., Abdel-Salam, G., Hassan, H., Fateen, E., Temtamy, S. (2022). Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants. EKB Journal Management System, 11(1), 1-11. doi: 10.21608/MXE.2023.283877
Noura R. Eissa; Mona L. Essawi; Ghada M.H. Abdel-Salam; Heba A. Hassan; Ekram M. Fateen; Samia A. Temtamy. "Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants". EKB Journal Management System, 11, 1, 2022, 1-11. doi: 10.21608/MXE.2023.283877
Eissa, N., Essawi, M., Abdel-Salam, G., Hassan, H., Fateen, E., Temtamy, S. (2022). 'Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants', EKB Journal Management System, 11(1), pp. 1-11. doi: 10.21608/MXE.2023.283877
Eissa, N., Essawi, M., Abdel-Salam, G., Hassan, H., Fateen, E., Temtamy, S. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants. EKB Journal Management System, 2022; 11(1): 1-11. doi: 10.21608/MXE.2023.283877

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Middle East Journal of Medical Genetics
Volume 11, Issue 1, January 2022, Page 1-11  XML PDF (1.38 MB)
Document Type: Original Article
DOI: 10.21608/MXE.2023.283877
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Authors
Noura R. Eissa1; Mona L. Essawi1; Ghada M.H. Abdel-Salam2; Heba A. Hassan1; Ekram M. Fateen3; Samia A. Temtamy2
1Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.
2Department of Clinical Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.
3Department of Biochemical Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.
Abstract
Mucolipidosis term describes several clinical conditions that combine features of both mucopolysaccharidoses and sphingolipidoses. Mucolipidosis typeII (MLII) and MLIII are two forms of a rare autosomal recessive lysosomal storage disorder. Both result from deficiency of the N- acetylglucosamine (GlcNAc)-1-phospho- transferase enzyme. This enzyme is a hexameric complex; 2α, 2β and 2γ encoded by two genes; GNPTAB & GNPTG gene. In this study, we report the underlying genetics of 4 different ML Egyptian patients who were recruited according to their clinical presentations, and β-Hexosaminindase -A enzyme activity assay. Whole exome sequencing for the four patients was carried out revealing 4 different mutations with all patients homozygous for their corresponding mutations. Two frameshift mutations were found in GNPTAB gene; c.2693dupA in exons 13 & c.3503_3504delTC in exon 19. The other two mutations were mapped to the GNPTG gene; a novel nonsense mutation c.658A>T in exon 4, and the splice site mutation c.233+1G>A. both mutations were associated with mild phenotype.
Keywords
Genetics; GNPTAB gene; GNPTG gene; Molecular; Mucolipidosis
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