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Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
Yoji Nakase1, Atsuko Hamada1, Naoya Kitamura2
1Oral and Maxillofacial Surgery, Hiroshima University Hospital, Hiroshima, Japan.
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.
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