Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Yoji Nakase; Atsuko Hamada; Naoya Kitamura; Tsuyoshi Hata; Shigeaki Toratani; Tetsuya Yamamoto; Tetsuji Okamoto

doi:10.1038/s41439-020-00126-6

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Hum Genome Var. 2020 Nov 18;7(1):38. doi: 10.1038/s41439-020-00126-6.

Authors

Yoji Nakase¹, Atsuko Hamada¹, Naoya Kitamura², Tsuyoshi Hata^{3

4}, Shigeaki Toratani⁵, Tetsuya Yamamoto², Tetsuji Okamoto^{6

7}

Affiliations

¹ Oral and Maxillofacial Surgery, Hiroshima University Hospital, Hiroshima, Japan.
² Department of Oral and Maxillofacial Surgery, Kochi Medical School, Kochi University, Kochi, Japan.
³ Department of Oral Surgery, Kawasaki Medical School, Okayama, Japan.
⁴ Kondo Dental Clinic, Medical Corporation Mutsumikai, Okayama, Japan.
⁵ Department of Molecular Oral Medicine and Maxillofacial Surgery, Graduate School of Biomedical and Health Science, Hiroshima University, Hiroshima, Japan.
⁶ Oral and Maxillofacial Surgery, Hiroshima University Hospital, Hiroshima, Japan. tetsuok@hiroshima-u.ac.jp.
⁷ Department of Molecular Oral Medicine and Maxillofacial Surgery, Graduate School of Biomedical and Health Science, Hiroshima University, Hiroshima, Japan. tetsuok@hiroshima-u.ac.jp.

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

Abstract

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