Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants
Abstract Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta i...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00274-z |
| _version_ | 1797233644217040896 |
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| author | Shintaro Nakamura Kyosuke Ibi Hiroyuki Tanaka Hirokazu Takami Keita Okada Nao Takasugi Motohiro Kato Naoto Takahashi Takanobu Inoue |
| author_facet | Shintaro Nakamura Kyosuke Ibi Hiroyuki Tanaka Hirokazu Takami Keita Okada Nao Takasugi Motohiro Kato Naoto Takahashi Takanobu Inoue |
| author_sort | Shintaro Nakamura |
| collection | DOAJ |
| description | Abstract Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta. |
| first_indexed | 2024-04-24T16:19:27Z |
| format | Article |
| id | doaj.art-155008f9812e4e209111140fcf3ae488 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-24T16:19:27Z |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-155008f9812e4e209111140fcf3ae4882024-03-31T11:14:17ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00274-zVentriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variantsShintaro Nakamura0Kyosuke Ibi1Hiroyuki Tanaka2Hirokazu Takami3Keita Okada4Nao Takasugi5Motohiro Kato6Naoto Takahashi7Takanobu Inoue8Department of Pediatrics, The University of TokyoDepartment of Pediatrics, The University of TokyoDepartment of Pediatrics, The University of TokyoDepartment of Neurosurgery, The University of TokyoDepartment of Orthopaedic Surgery, The University of TokyoDepartment of Pediatrics, The University of TokyoDepartment of Pediatrics, The University of TokyoDepartment of Pediatrics, The University of TokyoDepartment of Pediatrics, The University of TokyoAbstract Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta.https://doi.org/10.1038/s41439-024-00274-z |
| spellingShingle | Shintaro Nakamura Kyosuke Ibi Hiroyuki Tanaka Hirokazu Takami Keita Okada Nao Takasugi Motohiro Kato Naoto Takahashi Takanobu Inoue Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants Human Genome Variation |
| title | Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants |
| title_full | Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants |
| title_fullStr | Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants |
| title_full_unstemmed | Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants |
| title_short | Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants |
| title_sort | ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous crtap variants |
| url | https://doi.org/10.1038/s41439-024-00274-z |
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