综合征和非综合征性牙喷发初级失败:遗传概述
Clarissa Modafferi1, Elisabetta Tabolacci2,3, Cristina Grippaudo3,4,5
1UOC Genetica Medica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Genes
|February 26, 2025
概括
牙喷发的初级失败 (PFE) 是一种罕见的遗传疾病. 本综述详细介绍了PFE的遗传原因,包括非综合征和综合征形式,以指导诊断和治疗.
科学领域:
- 遗传学 遗传学 是一个
- 牙科医学 牙科医学
- 发展生物学 发展生物学
背景情况:
- 牙喷发的初级失败 (PFE) 是一种罕见的遗传疾病,其特点是没有物理障碍的未喷发的牙,通常会导致对正统牙耐药的开口咬伤.
- PFE可能源于遗传或系统因素,非综合征形式通常表现出自体主导遗传和可变表达性.
- 综合性PFE与复杂的多系统性疾病有关,这些疾病影响皮外发育,面模式和骨生长.
研究的目的:
- 提供综合症和非综合症PFE遗传基础的全面概述.
- 为了促进精确的诊断和开发个性化治疗策略的PFE.
- 为这种复杂的牙科异常的管理提供新的见解.
主要方法:
- 对与PFE相关的遗传因素的文献综述.
- 分析涉及非综合征性PFE的基因,包括PTH1R,TMEM119,POSTN和KMT2C.
- 对与综合性PFE相关的遗传变异的审查,如GAPO综合征,外皮发育不良症和脑发育不良症.
主要成果:
- 甲状腺激素1受体 (PTH1R) 基因是非综合征性PFE中最常见的相关基因.
- 其他基因,如TMEM119,POSTN和KMT2C,通过影响骨细胞功能,细胞外基因和牙生成,在PFE中发挥作用.
- 综合性PFE涉及外皮发育,面模式和骨生长中的遗传干扰.
结论:
- 了解PFE的遗传基础对于准确的诊断和量身定制的治疗方法至关重要.
- 识别特定的遗传变异可以为PFE患者提供个性化疗法.
- 对PFE分子机制的进一步研究可能会揭示新的治疗点,并改善患者管理.
相关概念视频
01:15Teeth
286
The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin...
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin...
286
01:21Tooth Anatomy
319
The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or...
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or...
319
01:33Pleiotropy
39.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.4K
01:22Sutures of the Skull
6.1K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
6.1K
02:07Oogenesis
63.3K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.3K
02:30Genomic Imprinting and Inheritance
33.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.1K