{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nakamura S"],"funding":["JSPS KAKENHI","Japan Agency for Medical Research and Development","Japan Agency for Medical Research and Development (AMED)"],"pagination":["16"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10978965"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_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."],"journal":["Human genome variation"],"pubmed_title":["Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants."],"pmcid":["PMC10978965"],"funding_grant_id":["JP22ek0109493"],"pubmed_authors":["Inoue T","Tanaka H","Okada K","Kato M","Takami H","Takahashi N","Ibi K","Takasugi N","Nakamura S"],"additional_accession":[]},"is_claimable":false,"name":"Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.","description":"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.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-21T21:28:49.826Z","creation":"2025-04-05T18:25:12.304Z"},"accession":"S-EPMC10978965","cross_references":{"pubmed":["38548746"],"doi":["10.1038/s41439-024-00274-z"]}}