書誌事項
- タイトル別名
-
- A case of nevoid basal cell carcinoma syndrome with a splicing mutation in the <i>PTCH1</i>gene
- PTCH1遺伝子のスプライシング変異を認めた母斑基底細胞癌症候群の1例
- PTCH1 イデンシ ノ スプライシング ヘンイ オ ミトメタ ハハ ハン キテイ サイボウガン ショウコウグン ノ 1レイ
- A case of nevoid basal cell carcinoma syndrome with a splicing mutation in the PTCH1gene
この論文をさがす
抄録
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome or Basal Cell Nevus Syndrome (BCNS), is an autosomal dominant disorder characterized by developmental defects, including palmar or plantar pits, bifid ribs, or calcification of the falx cerebri, and tumorigenesis, such as basal cell carcinoma (BCC), medulloblastoma, or keratocystic odontogenic tumor (KCOT). Human patched-1 (PTCH1) has been identified as the causative gene of NBCCS.<br>A 7-year-old boy was referred to our hospital in July 2010 by a dental clinic because of radiolucent findings on the right side of the maxilla and the left side of the mandible. NBCCS was diagnosed on the basis of our clinical findings and the diagnostic criteria proposed by Kimonis et al. Fenestration surgery of 2 tumors in the maxilla and mandible was performed with the patient under general anesthesia. Histopathological findings indicated that the 2 tumors were consistent with a diagnosis of KCOTs. We subsequently identified a PTCH1 germline mutation of c.2250+2t>a, leading to abnormal splicing in PTCH1. This splicing mutation was novel, and premature termination of PTCH1 as demonstrated by reverse-transcriptase polymerase chain reaction apparently caused the NBCCS manifestations seen in this patient. There has been no complications after 1 year of postoperative follow-up.
収録刊行物
-
- 日本口腔外科学会雑誌
-
日本口腔外科学会雑誌 59 (5), 367-371, 2013
社団法人 日本口腔外科学会
- Tweet
詳細情報 詳細情報について
-
- CRID
- 1390282681507508224
-
- NII論文ID
- 40019694759
- 130004714397
-
- NII書誌ID
- AN00189163
-
- ISSN
- 21861579
- 00215163
-
- NDL書誌ID
- 024678139
-
- 本文言語コード
- ja
-
- データソース種別
-
- JaLC
- NDL
- Crossref
- CiNii Articles
- KAKEN
-
- 抄録ライセンスフラグ
- 使用不可