Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
Abstract
:1. Introduction
Sentinel Symptoms of PD, Diagnostic Tests, and Therapeutic Procedures
2. Results
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. Sample Collection
4.3. Enzymatic Assay
4.4. DNA Extraction
4.5. Genetic Analysis-PCR, Sanger Sequencing, and MPLA
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Subject | Age | Family History | Gender F Female M Male | α-Glucosidase Activity (DBS) | Variant 1 | Variant 2 |
---|---|---|---|---|---|---|
#1 | 57 | yes | F | 2.1 | c.-32-13T>G | c.1655 T>C L552P |
#2 | 54 | yes | M | 0.7 | c.-32-13T>G | c.1655 T>C L552P |
#3 | 38 | no | M | 0.8 | c.-32-13T>G | c.2431 delC |
#4 | 45 | no | M | 0.6 | c.-32-13T>G | c.2242dupG |
#5 | 21 | no | M | 1.6 | c.-32-13T>G | c.1655 T>C L552P |
#6 | 2 | no | M | 0.6 | c.-32-13T>G | c.1927 G>A G643R |
#7 | NS | no | M | 0.8 | c.-32-13T>G | c.1465 G>A D489N |
#8 | 10 | no | M | 1.4 | c.-32-13T>G | c.2238 G>A W746 |
#9 | 54 | no | M | 1.5 | c.-32-13T>G | c.2560 C>T R854 |
#10 | 49 | no | F | 1.3 | c.-32-13T>G | c.1210 G>A D404N |
#11 | 63 | yes | M | 0.9 | c.-32-13T>G | c.526 delG E176R fs45 |
#12 | NS | no | NS | 0.9 | c.-32-13T>G | c.784 G>A E262K |
#13 | 82 | yes | M | 1 | c.-32-13T>G | c.784 G>A E262K |
#14 | 33 | yes | F | 1.3 | c.-32-13T>G | c.525 delT E176R fs45 |
#15 | 9 | yes | M | 1.5 | c.-32-13T>G | Del ex18 |
#16 | 35 | no | F | 5.4 | c.670 C>T | c.861C>T |
#17 | 5 | si | M | 1.1 | c.-32-13T>G homozygous | |
#18 | 2 month | no | M | 0.4 | c.1465 G>A D489N | c.2238 G>A W746 |
#19 | 78 | no | M | 1.5 | c.-32-13T>G homozygous | |
#20 | 24 days | no | M | 0 | c. 1565 C>G P522R homozygous | |
#21 | 58 | no | M | 0.8 | c.-32-13T>G homozygous | |
#22 | 59 | yes | M | 0.7 | c.-32-13T>G homozygous | |
#23 | 52 | yes | M | 1.6 | c.-32-13T>G homozygous | |
#24 | 3 month | no | M | 0.9 | c.526 delG E176R fs45 | c.2104 C>T R702C |
#25 | 11 month | no | F | 0.5 | c.1655 T>C L552P | c.2161 ins G E721G fs16 |
#26 | 1 month | no | F | 0.9 | c.784 G>A E262K | Deletion on exon 9 and 19 |
#27 | 42 | yes | M | 5 | c.784 G>A E262K | Deletion on exon 9 and 17 |
#28 | 7 | no | F | 0.4 | c.784 G>A E262K | C.1979 G>A R660H |
#29 | 5 month | no | M | 0.4 | c.1327-18 A>G | c.1655 T>C L552P |
#30 | 7 | no | F | 1.1 | c.784 G>A E262K | c.1979 G>A R660H |
#31 | 12 | no | F | 0.5 | c.2012 T>A M671K homozygous | |
#32 | 6 mouth | no | M | 0.8 | c.1437+2 T>C | c.1655 T>C L552P |
#33 | 53 | no | M | 20.3 | c.-32-13T>G | c.1551 +1 G>C |
#34 | 47 | yes | F | 5.4 | c.-32-13T>G | c.655 G>A G219R |
#35 | 15 | no | M | 4.2 | c.2332-40 C>G homozygous | |
#36 | 70 | yes | F | 3.3 | c.-32-13T>G | c.1551+1 G>C etero |
#37 | 45 | no | M | 0.6 | c.-32-13T>G | c.2242dupG E748G |
#38 | 24 | yes | M | 3.3 | c.-32-13T>G | Deletion on exon 18 |
#39 | 54 | yes | F | 0.6 | c.118 C>T R40 | c.2647-7 G>A |
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Moschetti, M.; Lo Curto, A.; Giacomarra, M.; Francofonte, D.; Zizzo, C.; Messina, E.; Duro, G.; Colomba, P. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. Int. J. Mol. Sci. 2024, 25, 9139. https://doi.org/10.3390/ijms25179139
Moschetti M, Lo Curto A, Giacomarra M, Francofonte D, Zizzo C, Messina E, Duro G, Colomba P. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. International Journal of Molecular Sciences. 2024; 25(17):9139. https://doi.org/10.3390/ijms25179139
Chicago/Turabian StyleMoschetti, Marta, Alessia Lo Curto, Miriam Giacomarra, Daniele Francofonte, Carmela Zizzo, Elisa Messina, Giovanni Duro, and Paolo Colomba. 2024. "Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study" International Journal of Molecular Sciences 25, no. 17: 9139. https://doi.org/10.3390/ijms25179139