一个综合征型遗传性牙龈纤维瘤病家系的临床及其致病基因研究  

Clinical and genetic analysis of a pedigree affected with a syndromic form of hereditary gingival fibromatosis

作　　者：张梅 汪涵 朱珈页 孙卫斌[1] 吴娟[1] ZHANG Mei;WANG Han;ZHU Jiaye;SUN Weibin;WU Juan(Department of Periodontology,Nanjing Stomatological Hospital,Medical School of Nanjing University,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属口腔医院,南京市口腔医院牙周病科,江苏南京210008

出　　处：《口腔疾病防治》2023年第1期52-57,共6页Journal of Prevention and Treatment for Stomatological Diseases

基　　金：江苏省自然科学基金青年项目(BK20200149);南京市卫生科技发展项目(YKK20152)。

摘　　要：目的探讨一个综合征型遗传性牙龈纤维瘤病(hereditary gingival fibromatosis,HGF)家系的临床特点及致病基因。方法收集先证者及其家系成员的临床资料;采集切除牙龈,组织学切片观察病理特征;同时采集家系成员的外周血,提取全基因组DNA,全外显子组测序检测可能的致病基因。结果该家系中女性患者均有牙龈纤维瘤病+先天多毛症+巨乳症,男性患者有牙龈纤维瘤病+先天多毛症,提示该家系可能属于综合征型HGF家系;牙龈组织病理特征表现为慢性炎症伴纤维组织瘤样增生、结缔组织增大,充满粗大的胶原纤维束;全外显子组测序结果未发现与已知HGF相关的致病基因突变,提示可能有新的致病基因。结论综合征类型HGF较为罕见,通过对本病例家系基因测序结果以及回顾以往病例报道,提示该家系可能是首个新综合征类型HGF(牙龈纤维瘤病+先天多毛症+巨乳症)家系,且由未知致病基因突变导致。Objective To explore the clinical and genetic characteristics of a Chinese pedigree affected with a syndromic form of hereditary gingival fibromatosis(HGF).Methods Clinical data of the pedigree members were collected.The excised gingiva were collected,and the pathological features were observed by histological sectioning.Genomic DNA was extracted from peripheral blood samples,and wholeexome sequencing was used to identify gene mutations.Results The proband,her mother,her maternal grandfather and her maternal grandfather's sister all suffered from gum hyperplasia;female patients had congenital hirsutism and macromastia,while male patients also had congenital hirsutism,which suggests that this pedigree may have a congenital syndrome.The pathological characteristics of the gingival tissue were chronic inflammation with fibromatous hyperplasia,connective tissue enlargement,and filling with thick collagen fiber bundles.In addition,wholeexome sequencing results showed that no mutations related to known pathogenic genes were found,suggesting that new pathogenic gene mutations may be the cause.Conclusion According to the literature and our gene sequencing results,it is suggested that this may be the first pedigree with a new syndrome HGF(gingival fibromatosis+congenital hirsutism+macromastia)caused by an unknown pathogenic gene mutation.

关 键 词：遗传性牙龈纤维瘤病 家系 综合征型 多毛症 巨乳症 病理特征 全外显子组测序 基因突变 

分 类 号：R78[医药卫生—口腔医学]