低碱性磷酸酯酶症患者临床表现及基因检测  

Clinical and genetic examination of a patient with hypophosphatasia

作　　者：杨晓雪 郭晓贺 刘安琪 李诗洁 谷阳 轩昆 YANG Xiaoxue;GUO Xiaohe;LIU Anqi;LI Shijie;GU Yang;XUAN Kun(State Key Laboratory of Military Stomatology&National Clinical Research Center far Oral Diseases&Shaanxi Clinical Research Center for 0ral Diseases,Department of Preventive Dentistry,The Third Affiliated Hospital of Air Force Medical University,Xi'an 710032,China)

机构地区：[1]军事口腔医学国家重点实验室,国家口腔疾病临床医学研究中心,陕西省口腔疾病临床医学研究中心,空军军医大学第三附属医院预防科,西安710032 [2]中国人民解放军联勤保障部队第九八五医院

出　　处：《实用口腔医学杂志》2023年第1期74-78,共5页Journal of Practical Stomatology

基　　金：国家自然科学基金(编号:82100992)。

摘　　要：目的:探讨低碱性磷酸酯酶症(HPP)患者家系的临床表现和实质病因。方法:采用临床检查和遗传学方法检测1个低碱性磷酸酯酶症家系临床表现,并提取家系成员的基因组DNA行全外显子组测序和分析,筛选基因突变位点。结果:先证者身材矮小,多数乳牙早失伴下颌第二乳磨牙萌出不足,其父母患有轻度慢性牙周炎。家系成员血清碱性磷酸酶含量均下降。先证者肝/骨/肾型碱性磷酸酶基因(ALPL)检测出两个错义突变,其他成员各检测出一个错义突变,其中,先证者ALPL基因c.542C>T与其父的ALPL基因错义突变一致,先证者ALPL基因c.644T>C与其母的ALPL基因错义突变一致。结论:经数据库及文献检索c.644T>C为一种新的基因突变型,两个轻型ALPL基因突变c.542C>T和c.644T>C同时存在时,可能是出现多数乳牙早失和个别牙萌出不足等临床表现的影响。Objective:To explore the clinical manifestations and genetic pathogeny by analyzing a pedigree with hypophosphatasia(HPP).Methods:Clinical examination and genetic methods were applied to the pedigree member with HPP to get a clinical diagnosis.Genomic DNA of the family members was extracted for whole exome sequencing and analysis,and mutation sites were screened.Results:The proband was in short stature.His most primary teeth were lost early,and his lower second deciduous molar was submerged.Serum alkaline phosphatase content decreased in all pedigree members.Two missense mutations were detected in alkaline phosphatase,liver/bone/kidney(ALPL)gene of proband,and one missense mutation was detected in other members.Among them,the proband ALPL gene c.542C>T was consistent with the missense mutation of his father’s ALPL gene and c.644T>C was consistent with the missense mutation of his mother’s.Conclusion:Retrieval by database and literature c.644T>C is a novel missense mutation.When two mild ALPL mutations c.542C>T and c.644T>C present simultaneously,it may be the influencing factor of clinical manifestations such as premature loss of deciduous teeth and submerged teeth.

关 键 词：低碱性磷酸酯酶症 ALPL 乳牙早失 

分 类 号：R788.5[医药卫生—口腔医学]