ELN基因的新突变导致心脏异常和 inguinal :病例报告
Hua-Yong Zhang1, Min Xiao2, Yong Zhang3
1Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China.
BMC pediatrics
|November 19, 2023
概括
在ELN基因中发生了一种新的无意义突变,导致一个儿童患有由弹性素驱动的遗传性疾病,呈现上膜大动脉狭窄和肺动脉狭窄. 这一案例突出了与 inguinal 的潜在新关联.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 儿童心脏病学 儿童心脏病学
背景情况:
- 弹性蛋白驱动的遗传疾病包括诸如上大动脉狭窄症 (SVAS) 和自体主导切口症 (autosomal dominant cutis laxa) 等疾病,这些疾病源于弹性蛋白缺乏或异常蛋白质产生.
- 该ELN基因提供了制造弹性蛋白的指令,这种蛋白质对各种组织的弹性至关重要,包括血管和皮肤.
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