在ERF基因中具有异构基因突变的头骨突触-4:一个病例报告
Ragavandran Ranganathan1, Sharada Reddy Jampanapalli1, Divya Barathi2
1Department of Pedodontics and Preventive Dentistry, Govt. Dental College & Hospital, Hyderabad, Telangana, India.
International journal of clinical pediatric dentistry
|December 9, 2024
概括
头骨突变-4是一种由ERF基因突变引起的遗传疾病,影响头骨生长,并出现牙问题. 早期的牙科干预对于治疗患病儿童并发症至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科牙科 儿科牙科
- 头骨面部异常 头骨面部异常
背景情况:
- 头骨突 (CS) 是头骨的过早融合,导致头部形状异常和潜在的脑部生长限制.
- 它会影响每2000至2500名儿童中的1名,可以是综合征性或非综合征性,最常见的是松部涉.
- CS可能是由于妊娠期间的遗传突变或二次因素造成的.
研究的目的:
- 在一个8岁的女孩中报告一个确诊的ERF基因突变的Craniosynostosis-4 (CRS4)病例.
- 突出相关的牙异常和这些发现的管理.
- 讨论ERF基因突变在综合征和非综合征性CS的临床意义.
主要方法:
- 一份病例报告详细介绍了一个8岁的女孩,她有CS和血缘关系的临床迹象.
- 基因分析揭示了EXON 4的ERF基因中的异构基因突变.
- 牙科检查和随后的干预,包括修复,纸盖,提取和空间维护者.
主要成果:
- 这名患者被诊断为由于ERF基因突变而导致的Craniosynostosis-4.
- 牙科发现包括未爆发的牙,,以及深深的坑和裂.
- 干预后的牙科管理显示,先前未爆发的牙的成功喷发.
结论:
- ERF基因的突变与突-4相关,呈现出明显的面和潜在的牙异常.
- 早期的牙科诊断和管理对于解决CS儿童的口腔健康并发症至关重要.
- 虽然ERF基因突变很少见,但它们有助于骨突症的遗传异质性.
更多相关视频
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
2.6K
相关概念视频
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
01:33Pleiotropy
39.8K
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,...
39.8K