Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected female...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/453105 |
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| _version_ | 1832551483480997888 |
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| author | Teva Brender Donna Wallerstein John Sum Robert Wallerstein |
| author_facet | Teva Brender Donna Wallerstein John Sum Robert Wallerstein |
| author_sort | Teva Brender |
| collection | DOAJ |
| description | Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation. |
| format | Article |
| id | doaj-art-b0d14f1d366f44adb969c47061ea3c44 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-b0d14f1d366f44adb969c47061ea3c442025-02-03T06:01:21ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/453105453105Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 GeneTeva Brender0Donna Wallerstein1John Sum2Robert Wallerstein3Silicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA 95128, USASilicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA 95128, USASilicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA 95128, USASilicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA 95128, USAPelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.http://dx.doi.org/10.1155/2015/453105 |
| spellingShingle | Teva Brender Donna Wallerstein John Sum Robert Wallerstein Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene Case Reports in Genetics |
| title | Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene |
| title_full | Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene |
| title_fullStr | Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene |
| title_full_unstemmed | Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene |
| title_short | Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene |
| title_sort | unusual presentation of pelizaeus merzbacher disease female patient with deletion of the proteolipid protein 1 gene |
| url | http://dx.doi.org/10.1155/2015/453105 |
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