帕杰特骨病和林奇综合征:一个特殊的发现
Ana-Maria Gheorghe1, Laura-Semonia Stanescu1,2, Eugenia Petrova1,3
1C.I. Parhon National Institute of Endocrinology, 020021 Bucharest, Romania.
Diagnostics (Basel, Switzerland)
|June 28, 2023
概括
本案例研究报告了帕杰特骨病 (PDB) 和林奇综合征 (LS) 在44岁的女性中罕见的同时发生. 基因分析揭示了SQSTM1和MSH2基因中的致病变体,这对她无症状的女儿有影响.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 内分泌学 在内分泌学.
背景情况:
- 帕杰特骨病 (PDB) 是一种慢性疾病,其特征是异常的骨重塑.
- 林奇综合征 (LS) 是一种遗传性疾病,增加了各种癌症,特别是结肠直肠癌的风险.
- PDB和LS的同时发生非常罕见,对潜在的遗传相互作用或共享风险因素的理解有限.
研究的目的:
- 为了呈现一个特殊的病例,一个病人被诊断出患有帕杰特骨病和林奇综合征.
- 通过整体外基因组测序来研究这种罕见的双重诊断的遗传基础.
- 探索这些遗传缺陷的家族传播以及对受影响的亲属的潜在影响.
主要方法:
- 临床评估包括成像和骨周转标记器用于PDB诊断.
- 使用Ion AmpliSeqTM Exome RDY S5 Kit进行整体外体组序列.
- 对一级亲属进行基因查,以查找已识别的致病变体.
主要成果:
- 一名44岁的妇女被诊断出患有PDB和LS.
- 鉴定出异性致病变体:c.1175C>T (p.Pro392Leu) 在SQSTM1 (与PDB相关) 和c.2634+1G>T在MSH2 (与LS相关).
- 患者的女儿继承了这两种致病变体,但在临床上仍然无症状,突出显示了潜在的可变表达性.
结论:
- 这一案例代表了PDB和LS的独特共发生,与SQSTM1和MSH2中的病原性变体有关.
- 观察到,这两种遗传缺陷在家庭内都有很高的传染性.
- 对于无症状的女儿来说,进一步的终身随访至关重要,以监测潜在的表型表达和相关的癌症风险,包括骨髓瘤和骨髓瘤.
关键词:
林奇综合征是什么? 林奇综合征是什么?这就是MMR基因,MMR基因.佩杰特的骨疾病.这就是SQSTM1基因.骨头周转率标志物标记器诊断 诊断 诊断 诊断 诊断 诊断内分泌系统内分泌系统内分泌系统手术 手术 手术 手术 手术 手术 手术整体外基因组测序的测序这就是所谓的"zoledronate".更多相关视频
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
1.2K
09:43Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
Published on: November 22, 2019
6.3K
相关概念视频
01:33Pleiotropy
40.7K
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,...
40.7K
02:23Abnormal Proliferation
4.6K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
02:41Lethal Alleles
15.6K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.6K