ナンセンス変異による<i>PTCH1</i>遺伝子を伴った母斑基底細胞症候群の1例

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  • A case of nevoid basal cell carcinoma syndrome associated with nonsense mutation in the <i>PTCH1</i> gene
  • ナンセンス変異によるPTCH1遺伝子を伴った母斑基底細胞症候群の1例
  • ナンセンス ヘンイ ニ ヨル PTCH1 イデンシ オ トモナッタ ハハ ハン キテイ サイボウ ショウコウグン ノ 1レイ

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Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome or basal cell nevus syndrome (BCNS), is an autosomal dominant disorder that causes multiple basal cell carcinoma (BCC), keratocystic odontogenic tumor (KCOT), calcification of the falx cerebri, bifid rib, and palmar or plantar pits. The human patched-1 (PTCH-1) gene has been identified as the causative gene of NBCCS; however, its relation to clinical findings remains to be well defined. A 22-year-old woman was referred to our hospital in October 2011. We gave her a diagnosis of NBCCS based on clinical findings and diagnostic criteria. The surgical excision of 4 tumors was performed with the patient under general anesthesia. The pathologic findings indicated that the tumors were KCOTs. We subsequently identified a PTCH1 germline mutation of c .478C > T, which was a nonsense mutation in PTCH1. This nonsense mutation was considered the cause of the NBCCS manifestations seen in this patient. The aim of this study was to evaluate the relations of mutation types on the PTCH1 gene to clinical findings in NBCCS patients, including our case.

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