title: New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
abstract: 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.
authors.affiliation: Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Jinhui
authors.initials: J
authors.lastname: Wang
authors.forename: Jichen
authors.initials: J
authors.lastname: Li
authors.forename: Limin
authors.initials: L
authors.lastname: Mao
authors.forename: Fulin
authors.initials: F
authors.lastname: Guo
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
mesh_terms: D000225:Adenine; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D006801:Humans; D007571:Jaw Diseases / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009807:Odontogenic Cysts / Q000235:genetics; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D014176:Protein Biosynthesis / Q000235:genetics; D011487:Protein Conformation; D011956:Receptors, Cell Surface / Q000096:biosynthesis / Q000235:genetics*; D013941:Thymine; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D025521:Tumor Suppressor Proteins; D003596:Cytosine; D000225:Adenine; D013941:Thymine