一个中国家庭的努南综合征由 LZTR1 杂合变异引起：病例报告及文献复习。
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
机构信息
Endocrinology Department, Shenzhen Children's Hospital, 7019# Yitian Road, Futian District, Shenzhen, 518038, Guangdong Province, China.
School of Medicine, Southern University of Science and Technology, Shenzhen, 518055, Guangdong Province, China.
出版信息
BMC Endocr Disord. 2021 Jan 6;21(1):2. doi: 10.1186/s12902-020-00666-6.
BACKGROUND
Noonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among which LZTR1 was discovered recently. However, the pathogenesis and inheritance pattern of LZTR1 in Noonan syndrome have not yet been elucidated.
CASE PRESENTATION
We herein describe a family with LZTR1-related Noonan syndrome. In our study, the proband, sister, mother, maternal aunt and grandmother and female cousin showed the typical or atypical features of Noonan syndrome. Only 3 patients underwent the whole-exome sequencing analysis and results showed that the proband as well as her sister inherited the same heterozygous LZTR1 variant (c.1149 + 1G > T) from their affected mother. Moreover, the proband accompanied by growth hormone deficiency without other associated variants.
CONCLUSION
In a Chinese family with Noonan syndrome, we find that the c.1149 + 1G > T variant in LZTR1 gene shows a different autosomal dominant inheritance from previous reports, which changes our understanding of its inheritance and improves our understanding of Noonan syndrome.
背景
努南综合征是一种涉及多个系统的遗传性疾病。已经发现了超过 15 个相关基因，其中最近发现了 LZTR1 基因。然而，LZTR1 在努南综合征中的发病机制和遗传模式尚未阐明。
病例介绍
我们在此描述了一个 LZTR1 相关努南综合征的家系。在我们的研究中，先证者、妹妹、母亲、姨母和祖母以及女性表亲表现出典型或非典型的努南综合征特征。仅 3 名患者进行了全外显子组测序分析，结果显示先证者及其妹妹从患病母亲那里遗传了相同的杂合性 LZTR1 变异（c.1149 + 1G > T）。此外，先证者伴有生长激素缺乏，但没有其他相关变异。
结论
在一个中国努南综合征家系中，我们发现 LZTR1 基因中的 c.1149 + 1G > T 变异表现出与以往报道不同的常染色体显性遗传方式，这改变了我们对其遗传方式的认识，提高了我们对努南综合征的认识。
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