Wang Wei, Wang Jinhui, Li Jichen, Mao Limin, Guo Fulin, Zhang Bin
Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China.
Br J Oral Maxillofac Surg. 2009 Jul;47(5):366-9. doi: 10.1016/j.bjoms.2008.10.001. Epub 2008 Nov 12.
Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours. Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS. Mutation analysis of PTCH1 was done of all 10 members of this family by amplified polymerase chain reaction and direct sequencing. Two novel PTCH1 mutations (3146A-->T, 1686C-->T) were identified in all five affected members. The mutation, 3146A-->T in exon 17, is predicted to lead to different PTCH protein translations. 1686C-->T mutation in exon 11 is a nonsense mutation. These mutations were not found in any unaffected members of this family or in 100 unrelated healthy Chinese people. Our findings suggest that the 3146A-->T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.
痣样基底细胞癌综合征（NBCCS），也称为戈林综合征，以常染色体显性模式遗传，其特征为发育异常和易于形成肿瘤。我们的目的是在一个患有NBCCS的中国家族中寻找patched同源物1（PTHC1）突变。通过聚合酶链反应扩增和直接测序对该家族的所有10名成员进行了PTCH1突变分析。在所有5名患病成员中鉴定出两个新的PTCH1突变（3146A→T，1686C→T）。外显子17中的3146A→T突变预计会导致不同的PTCH蛋白翻译。外显子11中的1686C→T突变是无义突变。在该家族的任何未患病成员或100名无关的健康中国人中均未发现这些突变。我们的研究结果表明，PTCH基因中的3146A→T突变可能通过影响PTCH蛋白的构象和功能而成为NBCCS的病因。
