NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the ski...
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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/s41439-024-00279-8 |
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| _version_ | 1832594875610038272 |
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| author | Erina Tonouchi Kei-ichi Morita Yosuke Harazono Kyoko Hoshino Tetsuya Yoda |
| author_facet | Erina Tonouchi Kei-ichi Morita Yosuke Harazono Kyoko Hoshino Tetsuya Yoda |
| author_sort | Erina Tonouchi |
| collection | DOAJ |
| description | Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant. |
| format | Article |
| id | doaj-art-020c56ae67c24076a79327c1344ae142 |
| 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-020c56ae67c24076a79327c1344ae1422025-01-19T12:15:33ZengNature Publishing GroupHuman Genome Variation2054-345X2024-05-011111310.1038/s41439-024-00279-8NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromasErina Tonouchi0Kei-ichi Morita1Yosuke Harazono2Kyoko Hoshino3Tetsuya Yoda4Department of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityDepartment of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityDepartment of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversitySegawa Memorial Neurological Clinic for ChildrenDepartment of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityAbstract Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.https://doi.org/10.1038/s41439-024-00279-8 |
| spellingShingle | Erina Tonouchi Kei-ichi Morita Yosuke Harazono Kyoko Hoshino Tetsuya Yoda NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas Human Genome Variation |
| title | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
| title_full | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
| title_fullStr | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
| title_full_unstemmed | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
| title_short | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
| title_sort | nf1 with 47 xyy mosaicism diagnosed by mandibular neurofibromas |
| url | https://doi.org/10.1038/s41439-024-00279-8 |
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