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<p>Interferon regulatory factor 2 binding protein-like (<i>IRF2BPL)</i> is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. <i>IRF2BPL</i> encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic <i>IRF2BPL</i> variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders. Exome sequencing of 10 patients with developmental delay and/or epilepsy from nine families revealed nine pathogenic <i>IRF2BPL</i> variants, of which eight were novel: five missense, one in-frame indel, and three truncating variants. Using reported pathogenic and benign variants, we highlight here several regions of <i>IRF2BPL</i> that deviate in the frequency of pathogenic and benign variants. This study of detailed clinical and genetic information shows that <i>IRF2BPL</i> missense and in-frame indel variants are often associated with seizures and developmental delay.</p>

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Clinical and genetic spectrum of patients with IRF2BPL syndrome

  • 期刊论文

  • 发表日期：

    2025年1月22日

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  • Kazuhiro Iwama,
  • Mitsuhiro Kato,
  • Yuri Uchiyama,
  • Masamune Sakamoto,
  • Ryosuke Miyamoto,
  • Yuishin Izumi,
  • Kei Ohashi,
  • Ayako Hattori,
  • Noboru Yoshida,
  • Yoshiteru Azuma,
  • Akito Watanabe,
  • Chizuru Ikeda,
  • Yuko Shimizu-Motohashi,
  • Shohei Kusabiraki,
  • Eiji Nakagawa,
  • Masayuki Sasaki,
  • Kenji Sugai,
  • Sachiko Ohori,
  • Naomi Tsuchida,
  • Kohei Hamanaka,
  • Eriko Koshimizu,
  • Atsushi Fujita,
  • Mitsuko Nakashima,
  • Satoko Miyatake,
  • Toru Sengoku,
  • Kazuhiro Ogata,
  • Shinji Saitoh,
  • Hirotomo Saitsu,
  • Shuichi Ito,
  • Takeshi Mizuguchi,
  • Naomichi Matsumoto

摘要

Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders. Exome sequencing of 10 patients with developmental delay and/or epilepsy from nine families revealed nine pathogenic IRF2BPL variants, of which eight were novel: five missense, one in-frame indel, and three truncating variants. Using reported pathogenic and benign variants, we highlight here several regions of IRF2BPL that deviate in the frequency of pathogenic and benign variants. This study of detailed clinical and genetic information shows that IRF2BPL missense and in-frame indel variants are often associated with seizures and developmental delay.