Need for a new international rare disease database: the MECP2 duplication syndrome
Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
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WILEY-BLACKWELL
2015
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| Online Access: | http://hdl.handle.net/20.500.11937/19046 |
| _version_ | 1848749921733181440 |
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| author | Leonard, H. Downs, Jennepher Lim, Z. Wong, K. Murphy, N. Epstein, A. Ellaway, C. |
| author_facet | Leonard, H. Downs, Jennepher Lim, Z. Wong, K. Murphy, N. Epstein, A. Ellaway, C. |
| author_sort | Leonard, H. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development of a new international database. Methods: The International Rett Syndrome Database, first established in 2002, collects data on Rett syndrome and Rett-related disorders including MDS. Results: Data are available on 57 cases (49 males and 8 females) with MDS. Median age at ascertainment was 7.9 years (range 1.2–37.6 years) and at diagnosis 3 years (range 3–37 years). Only 10% had an initial diagnosis of MDS. Less than a third (30%) learned to walk (median age 30 months), while 70% learned to use babble or words (median age 15 months). Speech deterioration was reported in 37%, and only 20% were able to use word approximations or better at ascertainment. The majority (85%) had been hospitalized in the first 2 years of life often because of respiratory infections. Just under half (45%) had seizures, occurring daily in half (56%) of this group. Scoliosis affected a quarter of those aged over 7 years. The majority (90%) had gastrointestinal problems, and a third had a gastrostomy. Respiratory infections and sleep apnoea were common. Conclusion: Parents and clinicians alike need to know more about this disorder, particularly the occurrence of co-morbidities and their management. These data supported by consumer consultation will inform the development of a new MDS-specific international database. |
| first_indexed | 2025-11-14T07:28:37Z |
| format | Journal Article |
| id | curtin-20.500.11937-19046 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T07:28:37Z |
| publishDate | 2015 |
| publisher | WILEY-BLACKWELL |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-190462018-12-14T00:50:13Z Need for a new international rare disease database: the MECP2 duplication syndrome Leonard, H. Downs, Jennepher Lim, Z. Wong, K. Murphy, N. Epstein, A. Ellaway, C. Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development of a new international database. Methods: The International Rett Syndrome Database, first established in 2002, collects data on Rett syndrome and Rett-related disorders including MDS. Results: Data are available on 57 cases (49 males and 8 females) with MDS. Median age at ascertainment was 7.9 years (range 1.2–37.6 years) and at diagnosis 3 years (range 3–37 years). Only 10% had an initial diagnosis of MDS. Less than a third (30%) learned to walk (median age 30 months), while 70% learned to use babble or words (median age 15 months). Speech deterioration was reported in 37%, and only 20% were able to use word approximations or better at ascertainment. The majority (85%) had been hospitalized in the first 2 years of life often because of respiratory infections. Just under half (45%) had seizures, occurring daily in half (56%) of this group. Scoliosis affected a quarter of those aged over 7 years. The majority (90%) had gastrointestinal problems, and a third had a gastrostomy. Respiratory infections and sleep apnoea were common. Conclusion: Parents and clinicians alike need to know more about this disorder, particularly the occurrence of co-morbidities and their management. These data supported by consumer consultation will inform the development of a new MDS-specific international database. 2015 Journal Article http://hdl.handle.net/20.500.11937/19046 10.1111/jir.12212 WILEY-BLACKWELL restricted |
| spellingShingle | Leonard, H. Downs, Jennepher Lim, Z. Wong, K. Murphy, N. Epstein, A. Ellaway, C. Need for a new international rare disease database: the MECP2 duplication syndrome |
| title | Need for a new international rare disease database: the MECP2 duplication syndrome |
| title_full | Need for a new international rare disease database: the MECP2 duplication syndrome |
| title_fullStr | Need for a new international rare disease database: the MECP2 duplication syndrome |
| title_full_unstemmed | Need for a new international rare disease database: the MECP2 duplication syndrome |
| title_short | Need for a new international rare disease database: the MECP2 duplication syndrome |
| title_sort | need for a new international rare disease database: the mecp2 duplication syndrome |
| url | http://hdl.handle.net/20.500.11937/19046 |