Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical m...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2019-01-01
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| Series: | Mitochondrial DNA. Part B. Resources |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/23802359.2018.1553510 |
| _version_ | 1797640557601751040 |
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| author | Lía Mayorga Juan A. Cueto Adriana P. Correa María J. Guillamondegui Mariana A. Loos Verónica H. Araoz Sergio R. Laurito María Roqué |
| author_facet | Lía Mayorga Juan A. Cueto Adriana P. Correa María J. Guillamondegui Mariana A. Loos Verónica H. Araoz Sergio R. Laurito María Roqué |
| author_sort | Lía Mayorga |
| collection | DOAJ |
| description | Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical mutations. Molecular diagnosis for mitochondrial diseases is always a challenge and Multiplex ligation-dependent probe amplification (MLPA) of mitochondrial DNA can be an initial test for molecular diagnosis, although it is not widely used. We present a MILS patient in which MLPA was able to detect the common m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis. |
| first_indexed | 2024-03-11T13:33:53Z |
| format | Article |
| id | doaj.art-cf0e308c49ff4f24ad07cab092edaec5 |
| institution | Directory Open Access Journal |
| issn | 2380-2359 |
| language | English |
| last_indexed | 2024-03-11T13:33:53Z |
| publishDate | 2019-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Mitochondrial DNA. Part B. Resources |
| spelling | doaj.art-cf0e308c49ff4f24ad07cab092edaec52023-11-02T16:07:24ZengTaylor & Francis GroupMitochondrial DNA. Part B. Resources2380-23592019-01-014153053310.1080/23802359.2018.15535101553510Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplificationLía Mayorga0Juan A. Cueto1Adriana P. Correa2María J. Guillamondegui3Mariana A. Loos4Verónica H. Araoz5Sergio R. Laurito6María Roqué7Universidad Nacional de Cuyo, CONICETUniversidad Nacional de Cuyo, CONICETHospital Pediátrico A. FlemingHospital Pediátrico A. FlemingHospital de Pediatría J.P. GarrahanHospital de Pediatría J.P. GarrahanUniversidad Nacional de Cuyo, CONICETUniversidad Nacional de Cuyo, CONICETLeigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical mutations. Molecular diagnosis for mitochondrial diseases is always a challenge and Multiplex ligation-dependent probe amplification (MLPA) of mitochondrial DNA can be an initial test for molecular diagnosis, although it is not widely used. We present a MILS patient in which MLPA was able to detect the common m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis.http://dx.doi.org/10.1080/23802359.2018.1553510leigh syndromemitochondrial dnamlpa |
| spellingShingle | Lía Mayorga Juan A. Cueto Adriana P. Correa María J. Guillamondegui Mariana A. Loos Verónica H. Araoz Sergio R. Laurito María Roqué Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification Mitochondrial DNA. Part B. Resources leigh syndrome mitochondrial dna mlpa |
| title | Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification |
| title_full | Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification |
| title_fullStr | Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification |
| title_full_unstemmed | Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification |
| title_short | Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification |
| title_sort | maternally inherited leigh syndrome detected by multiplex ligation dependent probe amplification |
| topic | leigh syndrome mitochondrial dna mlpa |
| url | http://dx.doi.org/10.1080/23802359.2018.1553510 |
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