The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies
Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimated that 2/3 of mothers of Du...
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2023-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200030M.pdf |
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| author | Maksić Jasmina Maksimović Nela Rasulić Lukas Milankov Olgica Marjanović Ana Cvetković Dragana Rakočević-Stojanović Vidosava Novaković Ivana |
| author_facet | Maksić Jasmina Maksimović Nela Rasulić Lukas Milankov Olgica Marjanović Ana Cvetković Dragana Rakočević-Stojanović Vidosava Novaković Ivana |
| author_sort | Maksić Jasmina |
| collection | DOAJ |
| description | Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimated that 2/3 of mothers of Duchenne MD probands are carriers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Duchenne MD/Becker MD probands with deletion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were included. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., deletion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 deletions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, mutations were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with deletions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with duplications (75%) compared to mothers of probands with deletions (56%). |
| format | Article |
| id | doaj-art-d6fd6bf6b7de4f09b5aea2de747d5d71 |
| institution | DOAJ |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-d6fd6bf6b7de4f09b5aea2de747d5d712025-08-20T03:23:51ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202023-01-0180320120710.2298/VSP190208030M0042-84502200030MThe importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathiesMaksić Jasmina0https://orcid.org/0000-0002-7974-9131Maksimović Nela1https://orcid.org/0000-0002-5815-573XRasulić Lukas2Milankov Olgica3Marjanović Ana4https://orcid.org/0000-0002-0182-7822Cvetković Dragana5https://orcid.org/0000-0002-1311-7481Rakočević-Stojanović Vidosava6Novaković Ivana7https://orcid.org/0000-0003-0202-0673University of Belgrade, Faculty for Special Education and Rehabilitation, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University Clinical Center of Serbia, Clinic for Neurosurgery, Belgrade, SerbiaInstitute for Health Care of Children and Youth of Vojvodina, Novi Sad, Serbia + University of Novi Sad, Faculty of Medicine, Novi Sad, SerbiaUniversity Clinical Center of Serbia, Clinic for Neurosurgery, Belgrade, SerbiaUniversity of Belgrade, Faculty of Biology, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University Clinical Center of Serbia, Clinic for Neurology, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, SerbiaBackground/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimated that 2/3 of mothers of Duchenne MD probands are carriers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Duchenne MD/Becker MD probands with deletion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were included. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., deletion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 deletions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, mutations were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with deletions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with duplications (75%) compared to mothers of probands with deletions (56%).https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200030M.pdfgenesgenetic testingmuscular dystrophiesmutationprenatal diagnosiswomen |
| spellingShingle | Maksić Jasmina Maksimović Nela Rasulić Lukas Milankov Olgica Marjanović Ana Cvetković Dragana Rakočević-Stojanović Vidosava Novaković Ivana The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies Vojnosanitetski Pregled genes genetic testing muscular dystrophies mutation prenatal diagnosis women |
| title | The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| title_full | The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| title_fullStr | The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| title_full_unstemmed | The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| title_short | The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| title_sort | importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies |
| topic | genes genetic testing muscular dystrophies mutation prenatal diagnosis women |
| url | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200030M.pdf |
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