与新型KDF1变异相关的牙发生:一个病例报告和文献综述
Narin Intarak1, Chawan Manaspon2,3, Thanakorn Theerapanon1
1Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Oral diseases
|March 19, 2024
概括
一种新的状细胞分化因子1 (KDF1) 变异在泰国人身上引起非综合征性牙生殖 (NSTA). 基因型-表型分析表明KDF1相关的NSTA与外皮发育不良相比具有不同的模式.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 口腔健康 口腔健康
背景情况:
- 角质细胞分化因子1 (KDF1) 在细胞分化中起作用.
- 外皮性形 (ED) 和非综合征性牙发育 (NSTA) 是影响外皮衍生组织的疾病.
- 了解NSTA的遗传基础对于诊断和管理至关重要.
研究的目的:
- 调查KDF1在外皮发育不良 (ED) 和非综合征性牙发育 (NSTA) 中的作用.
- 识别和描述与NSTA相关的KDF1中的遗传变异.
- 对KDF1相关病例进行文献综述和基因型-表型分析.
主要方法:
- 用基因组测序和桑格测序来识别和验证KDF1变异.
- 使用ACMG指南,MetaRNN和AlphaMissense进行了致病性预测.
- 对KDF1/NSTA病例进行了全面的文献审查,以确定基因型-表型相关性.
主要成果:
- 一种新的KDF1变种,p.Ile243Leu,在泰国NSTA试验中被发现,并被归类为"可能致病".
- 试验对象出现了小牙,牙损伤和严重牙周病,没有其他ED症状.
- 对14个KDF1病例的分析表明,与ED相关的变种聚集在DUF4656域内,而与NSTA相关的变种位于终端区域.
结论:
- 这项研究在泰国人口中发现了一种与NSTA相关的新型KDF1变异.
- 基因型-表型相关性表明KDF1相关的NSTA有一个独特的模式.
- 进一步研究KDF1在牙发育中的作用是有必要的.
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