一名患有致病性SASH3变异的男性出现成骨不全、智力残疾和反复感染。

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

作者信息

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

机构信息

Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

出版信息

Hum Genome Var. 2025 Sep 15;12(1):19. doi: 10.1038/s41439-025-00323-1.

DOI:10.1038/s41439-025-00323-1

PMID:40947476

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12434141/

Abstract

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.

摘要

含Src同源3结构域的衔接蛋白3（SASH3）缺乏症是一种X连锁免疫疾病。在此，我们鉴定出一名携带致病性SASH3变异（c.1039C>T [p.Arg347Cys]）的男性病例，该病例表现为成骨不全、智力残疾和反复感染。虽然已对该病例的免疫学特征进行了描述，但仍需要进一步研究以确定SASH3变异与骨骼或神经学表现之间的关联。