Hong Kong Dermatology & Venereology Bulletin

Volume 11 Number 1, Spring 2003
Abstract

Novel mutation of the PATCHED gene in a patient with basal cell naevus syndrome and Tetralogy of Fallot
基底細胞痣綜合症合併法洛氏四聯症患者之 PATCHED 基因上的新突變

CW Lam 林青雲, IFM Lo 盧輝文, SF Tong 湯瑞芬, STS Lam 林德深

Basal cell naevus syndrome (BCNS) is an autosomal dominant disease characterised by the presence of basal cell carcinomas, odontogenic keratocysts, palmoplantar pits and calcification in the falx cerebri, and caused by mutational inactivation of the PATCHED (PTCH) gene. We identified a Chinese family with the proband and her mother having features characteristics of BCNS. Interestingly, the proband also had Tetralogy of Fallot and cerebral atrophy, which had not been described in BCNS. To investigate the molecular basis of BCNS in this family, we have performed a mutational analysis of the PTCH gene by denaturing high-performance liquid chromatography. A one-base pair frameshift deletion, 1480delT, leading to truncated patched protein was identified in the proband and her mother. This result is consistent with previous report that mutational inactivation of the PTCH gene is the cause of BCNS in Chinese. (H.K. Dermatol. Venereol. Bull. (2003) 11, 4-8)

基底細胞痣綜合症是一種常染色體顯性疾病,表現包括有基底細胞癌、牙源性囊腫、掌跖點凹及大腦鐮鈣化。其病因是PTCH基因突變性失活。我們發現一個華人家庭,其中的先証者及她的母親均有痣樣基底細胞癌的特微。特別的發現是,先証者還併發有法洛氏四聯症及大腦萎縮這兩種未被發現的病症。我們用高效變性液相色譜法來對這個家庭進行突變分析。我們在先証者及她的母親均發現一個鹼基對的架構轉移性缺失(1480delT),導致截段性片狀蛋白。這項研究與以前的報告吻合,即華人的痣樣基底細胞癌的病因是由於PTCH基因有突變性失活所引起。

Keywords : Basal cell naevus syndrome, denaturing HPLC, genodermatosis

關鍵詞:基底細胞痣綜合症,高效變性液相色譜法,遺傳性皮膚病



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