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, Pages 1-11 PDF (1.38 M) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/MXE.2023.283877 | ||
| 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 | ||
|
Statistics Article View: 151 PDF Download: 144 |
||
