双性SH2B3生殖系变异与新生儿骨髓增殖性疾病和多系统性参与有关
Davide Leardini1, Elisabetta Flex2, Elliot Stieglitz3
1Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. davide.leardini5@unibo.it.
European journal of human genetics : EJHG
|June 6, 2025
概括
功能丧失的SH2B3变体与新生儿骨髓增殖性疾病 (MPD) 有关,这种疾病自行解决,随后是儿童血栓细胞瘤和多系统性特征. 这项研究定义了更好的患者管理的临床表型.
科学领域:
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
- 儿科 儿科 儿科
背景情况:
- 新生儿骨髓增殖性疾病 (MPD) 可以发生在诸如诺南综合征和唐氏综合征之类的遗传疾病中,通常会自发消失.
- 最近,SH2B3变异已与新生儿MPD有关,但它们的完整临床意义和外血病学表现尚不清楚.
研究的目的:
- 描述SH2B3相关疾病的儿童的临床特征.
- 定义与生殖线双基SH2B3功能丧失 (LoF) 变体相关的表型.
主要方法:
- 10名儿童的临床病例系列与SH2B3相关的疾病.
- 对生殖系双和单SH2B3LoF变异的分析,在血液细胞中失去异性.
主要成果:
- 新生儿MPD的患者,大多是自我限制的.
- 血栓细胞瘤在血清正常化后在儿童时期发展.
- 多系统性特征包括增长延迟,神经功能障碍和自身免疫性疾病.
结论:
- 生殖系双性SH2B3LoF变体与呈现新生儿MPD的独特临床表型有关.
- 了解这种表型对患者的管理和长期随访有影响.
相关概念视频
01:33Pleiotropy
41.2K
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,...
41.2K
01:35Pedigree Analysis
85.4K
Overview
85.4K
01:15Differentiation of Common Myeloid Progenitor Cells
3.3K
Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...
3.3K
01:20The Retinoblastoma Gene
4.2K
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,...
4.2K
02:41Lethal Alleles
15.7K
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...
15.7K
01:49Multiple Allele Traits
35.0K
The Concept of Multiple Allelism
35.0K