title: One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours.
abstract: Keratocystic odontogenic tumours (KOCTs) are common benign cystic tumours that arise sporadically or associated with nevoid basal cell carcinoma syndrome (NBCCS). PTCH mutation can be found in sporadically or NBCCS associated KOCTs. Few PTCH mutations in families with non-syndromic KOCTs have been reported. Through PCR and gene sequence analysis, the authors discovered one missense mutation c.3277G>C in exon 19 of PTCH gene in a Chinese family with non-syndromic KOCTs. This mutation causes one highly conserved glycine residue transit to arginine on the 10th transmembrane region of PTCH protein. This work revealed that the missense mutation of PTCH is the causative and dominant gene of KOCTs in this family.
authors.affiliation: Department of Oral and Maxillofacial Surgery, College of Stomatology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Lu
authors.forename: G
authors.initials: G
authors.lastname: Shen
authors.forename: W
authors.initials: W
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000235:genetics; D002681:China; D017124:Conserved Sequence / Q000235:genetics; D003596:Cytosine; D003803:Dentigerous Cyst / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006147:Guanine; D006801:Humans; D008297:Male; D008336:Mandibular Diseases / Q000235:genetics; D008439:Maxillary Diseases / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D009807:Odontogenic Cysts / Q000235:genetics; D009808:Odontogenic Tumors / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D006147:Guanine; D003596:Cytosine; D001120:Arginine; D005998:Glycine