多颗颈椎根吸收累及 22 颗牙齿：具有潜在遗传易感性的病例。

Multiple Cervical Root Resorption Involving 22 Teeth: A Case with Potential Genetic Predisposition.

机构信息

State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Key Laboratory of Stomatology, School of Stomatology, The Fourth Military Medical University, Xi'an, Shaanxi, China.

Department of Stomatology, Xijing 986 Hospital, The Fourth Military Medical University, Xi'an, Shaanxi, China.

出版信息

J Endod. 2022 Dec;48(12):1526-1532. doi: 10.1016/j.joen.2022.10.006. Epub 2022 Oct 19.

DOI:10.1016/j.joen.2022.10.006

PMID:36270577

Abstract

A rare case of extensive multiple idiopathic cervical root resorption with potential genetic predisposition was presented. A heathy 19-year-old Chinese male with no contributory medical or family/social history complained of pain during mastication that lasted for several months. Oral examination identified 7 missing teeth and external cervical root resorption involving 9 teeth. Comparison of orthopantomograms taken in May 2021 and February 2022 identified that cervical root resorption occurred in 22 teeth. Resorption commenced at the cementoenamel junction and progressed rapidly over the 9-month period. Laboratory test results were within normal limits. Trio-based whole-exome sequencing showed a missense mutation c.5630 C > T in the filamin A (FLNA) gene at chromosome X of the subject. This is suggestive of the possibility of sex-linked recessive inheritance. This is the first study to report FLNA mutation in human subjects with cervical root resorption involving multiple teeth.

摘要

本文报告了一例罕见的广泛多发特发性颈椎根吸收病例，可能存在遗传易感性。一名 19 岁健康的中国男性，无其他医疗或家族/社会病史，主诉咀嚼时疼痛数月。口腔检查发现 7 颗缺失牙和 9 颗牙的外颈根吸收。比较 2021 年 5 月和 2022 年 2 月拍摄的全口曲面断层片，发现颈椎根吸收发生在 22 颗牙齿上。吸收始于牙骨质-釉质交界处，在 9 个月内迅速进展。实验室检查结果在正常范围内。基于三重的全外显子组测序显示，该患者 X 染色体上的原肌球蛋白 A (FLNA) 基因 c.5630C>T 存在错义突变。这提示可能存在性连锁隐性遗传。这是首例报道 FLNA 突变与多颗牙齿颈椎根吸收相关的人类研究。