Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients
| Autor: | Sajad Sheikh-Kanlomilan, Nafiseh Behranvand-Jazi, Nafisehsadat Hosseini, Mohaddeseh Behjati, Ladan Yari, Milad Ebrahimi, Mansoor Salehi, Mohaddeseh Amini, Pardis Tahmasebi, Mahdieh Behnam |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Guanine Short Communication Acid alpha-glucosidase polymerase chain reaction lcsh:Medicine law.invention Gene product 03 medical and health sciences symbols.namesake Exon chemistry.chemical_compound 0302 clinical medicine law Gene Polymerase chain reaction Sanger sequencing Genetics biology lcsh:R nutritional and metabolic diseases Pompe disease General Medicine Molecular biology Enzyme assay 030104 developmental biology chemistry symbols biology.protein novel mutation 030217 neurology & neurosurgery |
| Zdroj: | Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences Journal of Research in Medical Sciences, Vol 22, Iss 1, Pp 100-100 (2017) |
| ISSN: | 1735-7136 1735-1995 |
| Popis: | Background: Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. Materials and Methods: In this cross-sectional study, GAA enzyme activity assay was assessed using tandem mass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis. Results: GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0.02). Two individuals showed ten alterations in the GAA sequence, in which one of them (c. 1650del G) has not been previously described in the literature. A single Guanine deletion (del-G) was detected at codon 551 in exon 12. Conclusion: According to the literature, the detected change is a novel mutation. We hypothesized that the discovered deletion in the GAA might lead to a reduced activity of the gene product. |
| Databáze: | OpenAIRE |
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