Case of ADNP syndrome with autism spectrum disorder, intellectual disability, and characteristic early eruption of primary teeth

DOI
  • Yamashita Tomoyo
    Department of Pediatrics, Osaka Police Hospital, Osaka Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka
  • Tanaka Yuko
    Department of Pediatrics, Osaka Police Hospital, Osaka
  • Miwatani Takashi
    Department of Pediatrics, Osaka Police Hospital, Osaka
  • Okamoto Nobuhiko
    Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi, Osaka
  • Takenouchi Toshiki
    Center for Medical Genetics, Keio University School of Medicine, Tokyo
  • Uehara Tomoko
    Center for Medical Genetics, Keio University School of Medicine, Tokyo Department of Medical Genetics, Aichi Developmental Disability Center, Kasugai, Aichi
  • Suzuki Hisato
    Center for Medical Genetics, Keio University School of Medicine, Tokyo Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki
  • Kosaki Kenjiro
    Center for Medical Genetics, Keio University School of Medicine, Tokyo
  • Nishigaki Toshinori
    Department of Pediatrics, Nippon Life Hospital, Osaka

Bibliographic Information

Other Title
  • 自閉スペクトラム症と知的障害，特徴的な乳歯の早期萌出を認めたADNP症候群の1例

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Description

<p>  ADNP (activity-dependent neuroprotective protein) syndrome is characterized by autism spectrum disorder, intellectual disability, characteristic facial features, and early eruption of primary teeth. A 13-year-old boy presented with clinical symptoms characteristic of ADNP syndrome. Whole-exome analysis indicated that the patient had the NM_001282531.2 (ADNP) : c.2496_2499del gene variant. His intellectual disability was more severe than previously reported. As cases accumulate in the future, it will be increasingly possible to clarify the genotype-phenotype correlation.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 56 (2), 142-144, 2024

    The Japanese Society of Child Neurology

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