Murata Yuka, Kurosaka Hiroshi, Ohata Yasuhisa, Aikawa Tomonao, Takahata Sosuke, Fujii Katsunori, Miyashita Toshiyuki, Morita Chisato, Inubushi Toshihiro, Kubota Takuo, Sakai Norio, Ozono Keiichi, Kogo Mikihiko, Yamashiro Takashi
1Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Japan.
2The First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan.
Hum Genome Var. 2019 Apr 2;6:16. doi: 10.1038/s41439-019-0047-9. eCollection 2019.
Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root.
基底细胞痣综合征（BCNS）是一种罕见的多系统常染色体显性疾病，其特征表现为多种表型，包括皮肤多发性基底细胞癌、颌骨牙源性角化囊肿，偶尔还伴有唇裂和/或腭裂。在本报告中，我们描述了一名6岁的日本女孩，她在[具体基因名称未给出]中存在一种新的杂合性无义突变，表现出罕见的颅面表型，如牙齿发育不全和牙根短小。
