致病性SASH3变异男性的成骨不全、智力残疾和复发性感染。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-09-15 DOI:10.1038/s41439-025-00323-1

Jun Kido, Tomoyuki Mizukami, Yohei Misumi, Keishin Sugawara, Shouichirou Kusunoki, Naoto Nishimura, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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引用次数: 0

摘要

Src同源3结构域连接蛋白3 （SASH3）缺乏症是一种x连锁免疫疾病。在这里，我们发现了一名男性病例的致病SASH3变异(c.1039C>T [p.][347cys])，表现为成骨不全、智力残疾和复发性感染。虽然该病例的免疫学特征得到了表征，但需要进一步的研究来确定SASH3变异与骨骼或神经系统表现之间的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.

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Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.

Src Homology 3 Domain-containing Adaptor Protein 3 (SASH3) deficiency is an X-linked immune disorder. Here we identified a male case with a pathogenic SASH3 variant (c.1039C>T [p.Arg347Cys]) who presented with osteogenesis imperfecta, intellectual disability and recurrent infections. While immunological features in this case were characterized, further studies are needed to determine the association between the SASH3 variant and the skeletal or neurological manifestations.

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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