为伴有新型复合杂合CRTAP变异的成骨不全症脑积水患者实施脑室-次脑分流术

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-03-28 DOI:10.1038/s41439-024-00274-z

Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

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引用次数: 0

摘要

成骨不全症的特点是经常发生骨折、骨骼畸形和其他全身症状。严重的成骨不全症可能会发展为脑积水；然而，这种并发症的治疗策略仍不明确。在此，我们描述了一名患有症状性脑积水的婴儿在接受脑室-次脑分流术治疗后出现的严重成骨不全症。靶向新一代测序发现了新型复合杂合 CRTAP 变异，即 NM_006371.5，c.241 G >T，p. (Glu81*) 和 NM_006371.5，c.923-2_932del。我们认为，脑室-次脑分流术是治疗严重成骨不全症患者脑积水的一种有效而安全的方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks