Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.
10.3724/zdxbyxb-2022-0492
- Author:
Xiao PENG
1
;
Mo CHEN
2
;
Dong WANG
2
;
Rui HAN
2
;
Tingyi GAO
2
;
Liang LIU
2
;
Chang LIU
2
;
Kai ZHANG
3
Author Information
1. Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China. px91056@163.com.
2. Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China.
3. Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China. zk29788@163.com.
- Publication Type:Journal Article
- Keywords:
Bifid rib-basal cell nevus-jaw cyst syndrome;
Case report;
FANCD2 gene;
Gene mutation;
PTCH1 gene;
The family
- MeSH:
Humans;
Male;
Basal Cell Nevus Syndrome/diagnosis*;
Mutation;
Nevus;
Patched-1 Receptor/genetics*;
Pedigree;
Ribs/abnormalities*
- From:
Journal of Zhejiang University. Medical sciences
2023;52(2):223-229
- CountryChina
- Language:English
-
Abstract:
Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
