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

山下 朋代; 田中 裕子; 三輪谷 隆史; 岡本 伸彦; 武内 俊樹; 上原 朋子; 鈴木 寿人; 小崎 健次郎; 西垣 敏紀

doi:10.11251/ojjscn.56.142

Short Communications

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

Tomoyo Yamashita, Yuko Tanaka, Takashi Miwatani, Nobuhiko Okamoto, Toshiki Takenouchi, Tomoko Uehara, Hisato Suzuki, Kenjiro Kosaki, Toshinori Nishigaki

Author information

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

Keywords: autism spectrum disorder, intellectual disability, ADNP, Helsmoortel-Van der Aa syndrome, early eruption of primary teeth

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Supplementary material

2024 Volume 56 Issue 2 Pages 142-144

DOI https://doi.org/10.11251/ojjscn.56.142

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Abstract

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.

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