Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait
Abstract A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent wit...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-05-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00278-9 |
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| _version_ | 1832594936940199936 |
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| author | Keiko Shimojima Yamamoto Yusuke Itagaki Kazuki Tanaka Nobuhiko Okamoto Toshiyuki Yamamoto |
| author_facet | Keiko Shimojima Yamamoto Yusuke Itagaki Kazuki Tanaka Nobuhiko Okamoto Toshiyuki Yamamoto |
| author_sort | Keiko Shimojima Yamamoto |
| collection | DOAJ |
| description | Abstract A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed. |
| format | Article |
| id | doaj-art-d06c934531f645b5b3b06d6ea591b902 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-d06c934531f645b5b3b06d6ea591b9022025-01-19T12:15:42ZengNature Publishing GroupHuman Genome Variation2054-345X2024-05-011111410.1038/s41439-024-00278-9Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease traitKeiko Shimojima Yamamoto0Yusuke Itagaki1Kazuki Tanaka2Nobuhiko Okamoto3Toshiyuki Yamamoto4Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Suita Municipal HospitalDepartment of Pediatrics, Suita Municipal HospitalDepartment of Medical Genetics, Osaka Women’s and Children’s HospitalInstitute of Medical Genetics, Tokyo Women’s Medical UniversityAbstract A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed.https://doi.org/10.1038/s41439-024-00278-9 |
| spellingShingle | Keiko Shimojima Yamamoto Yusuke Itagaki Kazuki Tanaka Nobuhiko Okamoto Toshiyuki Yamamoto Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait Human Genome Variation |
| title | Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait |
| title_full | Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait |
| title_fullStr | Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait |
| title_full_unstemmed | Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait |
| title_short | Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait |
| title_sort | xq22 deletion involving tceal1 in a female patient with early onset neurological disease trait |
| url | https://doi.org/10.1038/s41439-024-00278-9 |
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