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<p>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&gt;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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月15日

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

摘要

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.