PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
OBJECTIVE
PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome. The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.


METHODS
DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).


RESULTS
A previously reported germline mutation (c.2619C>A) was identified in two familial cases involving the mother and the daughter, with the mother also carrying a novel somatic mutation (c.361_362insGAGC). Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A>T) were detected in three unrelated patients with syndrome. The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).


CONCLUSIONS
The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
Li
T-J
TJ
Department of Oral Pathology, School and Hospital of Stomatology, Peking University, Beijing, China. litiejun22@vip.sina.com
Yuan
J-W
JW
Gu
X-M
XM
Sun
L-S
LS
Zhao
H-S
HS
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D009807:Odontogenic Cysts / Q000150:complications / Q000235:genetics*; D009808:Odontogenic Tumors / Q000150:complications / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D012016:Reference Values
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface