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PTPN11基因突变：将谷氨酰胺510谷氨酸突变与“豹皮综合征表型”联系起来。

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

作者信息

Digilio M Cristina, Sarkozy Anna, Pacileo Giuseppe, Limongelli Giuseppe, Marino Bruno, Dallapiccola Bruno

机构信息

Medical Genetics, Bambino Gesù Hospital, Rome, Italy,

出版信息

Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30.

DOI:10.1007/s00431-006-0163-7
PMID:16733669
Abstract

We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

摘要

我们描述了两名患有快速进展性严重双心室梗阻性肥厚型心肌病、二尖瓣结构异常、面部异常、咖啡牛奶斑和多发雀斑的患者，其与PTPN11基因Gln510Glu突变相关的“豹综合征（LS）表型”。

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本文引用的文献

1
LEOPARD syndrome: clinical diagnosis in the first year of life.豹皮综合征：出生后第一年的临床诊断
Am J Med Genet A. 2006 Apr 1;140(7):740-6. doi: 10.1002/ajmg.a.31156.
2
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.人类疾病中种系和体细胞PTPN11突变的多样性及功能后果。
Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7.
3
Noonan syndrome and related disorders: genetics and pathogenesis.努南综合征及相关疾病：遗传学与发病机制
通过突变构象倾向可以预测 SHP2 的临床表型、癌症或 RAS 相关疾病。
Cell Mol Life Sci. 2023 Dec 12;81(1):5. doi: 10.1007/s00018-023-05052-8.
4
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.多发性黑子性先天性色素沉着综合征肥厚型心肌病的自然病史。
Circ Genom Precis Med. 2023 Aug;16(4):350-358. doi: 10.1161/CIRCGEN.122.003861. Epub 2023 May 18.
5
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.伴有 RAS 通路相关肥厚型心肌病的儿科患者：PTPN11 突变的多方面后果。
Orphanet J Rare Dis. 2019 Jul 5;14(1):163. doi: 10.1186/s13023-019-1151-0.
6
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.针对心肌病的 NGS 检测：添加 RASopathy 相关基因的效用。
Hum Mutat. 2018 Jul;39(7):954-958. doi: 10.1002/humu.23535. Epub 2018 May 16.
7
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines.杂合性缺失 AKT1 可挽救多发性黑子综合征伴 Noonan 综合征小鼠模型的心肌收缩力，但不能挽救心肌肥厚。
J Mol Cell Cardiol. 2017 Nov;112:83-90. doi: 10.1016/j.yjmcc.2017.09.003. Epub 2017 Sep 11.
8
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Ir J Med Sci. 2018 Feb;187(1):55-57. doi: 10.1007/s11845-017-1646-4. Epub 2017 Jun 25.
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Am J Hum Genet. 2002 Aug;71(2):389-94. doi: 10.1086/341528. Epub 2002 Jun 7.
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PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.努南综合征中的PTPN11突变：分子谱、基因型-表型相关性及表型异质性
Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1.