Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
| Autor: | Heba A. Hassan, Hanan Abd Elmawgoud Atia, Samia A. Temtamy, Ekram M. Fateen, Eman Aboul-Ezz, Mona M. Ibrahim, Mona L. Essawi, Noura R. Eissa |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
QH426-470 Biology Compound heterozygosity GNPTAB gene medicine.disease_cause Inclusion bodies Frameshift mutation 03 medical and health sciences Exon 0302 clinical medicine ML II Genetics medicine Egyptian chemistry.chemical_classification Mutation Mucolipidosis Research medicine.disease 030104 developmental biology Enzyme chemistry NGS 030220 oncology & carcinogenesis TP248.13-248.65 Mutations Biotechnology |
| Zdroj: | Journal of Genetic Engineering & Biotechnology Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021) |
| ISSN: | 2090-5920 |
| DOI: | 10.1186/s43141-021-00204-4 |
| Popis: | Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozygous or compound heterozygous mutations in GNPTAB gene are associated with the clinical presentation. This is the first study to characterize the underlying genetics of ML among a cohort of Egyptian patients. ML II diagnosis established by clinical assessment, biochemical evaluation of enzymes, electron microscopy examination of gingival inclusion bodies, and molecular study of GNPTAB gene using targeted next-generation sequencing panel in 8 patients form 8 unrelated Egyptian families. Results Sequencing revealed 3 mutations in GNPTAB gene; 1 novel frame-shift mutation in exon 19 (c.3488_3488delC) and 2 previously reported mutations (c.1759C>T in exon 13 and c.3503_3504delTC in exon 19). All patients were homozygous for their corresponding mutations and the parents were consanguineous. Conclusions According to the established quaternary diagnostic scheme, ML II was the final diagnosis in eight patients. The most common mutation was the frame shift c.3503_3504delTC mutation, found in 5 patients and associated with a severe phenotype. |
| Databáze: | OpenAIRE |
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