Noonan syndrome (NS, OMIM 163950) is a common autosomal dominant RASopathy caused mainly by gain﹐f‐function germline pathogenic variants in genes involved in the RAS/MAPK signaling pathway. LZTR1 gene has been associated with both dominant and recessive NS. Here, we present seven patients with...
以“努南综合征” “Noonan综合征”“亮氨酸拉链样转录调节因子1”“Noonan syndrome”及“LZTR1”为关键词,检索PubMed、Web of Science、中华医学期刊全文数据库、中国知网数据库及万方数据知识服务平台自2013年1月至2022年10月收录的文献...
Central South University, ChinaReviewed by:Antonius Plagge,University of Liverpool,United KingdomJia-Da Li,Central South University, China*Correspondence:Ronald R. Waclawronald.waclaw@cchmc.orgSpecialty section:This article was submitted toEpigenomics...
LZTR1Noonan syndromeRAS/MAPK syndromevascular malformationVariants in the ( ) gene (OMIM #600574) have been reported in recessive Noonan syndrome patients. In vivo evidence from animal models to support its causative role is lacking.doi:10.1002/mgg3.1107Yu Nakagama...
Noonan syndromeNeurofibromasWhole exome sequencingLZTR1Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association, inheritance ...
LZTR1 emerges as a predisposition gene for paediatric neoplasms. LZTR1 mutations are significantly higher than the background in liver cancers and testicular germ cell tumours. LZTR1 has been also recently added to the list of genes causing Noonan Syndrome, a RASopathy disorder. However, how LZT...
This case report provides increased knowledge on primary gonadal dysfunction in men with NS and enriches the clinical spectrum of NS from a rare variant in the novel gene LZTR1.doi:10.3389/fendo.2024.1354699Francesca OrsoliniLuisa PignataFulvia Baldinotti...
Although LZTR1 variants explain ~0.1% of cases across the DDD cohort, the gene is a relatively common cause of unsolved NS cases where recessive inheritance is suspected.doi:10.1111/cge.13533Pagnamenta, Alistair T.Kaisaki, Pamela J.Bennett, Fenella...
While PTPN11 was responsible for 50% of 18 patients with Noonan syndrome (NS), SOS1, LZTR1, RIT1, and RAF1 were responsible for the remaining 27.8%, 11.1%, 5.5%, and 5.5%, respectively. Three variants in LZTR1 were novel, of which two were identified in the compound heterozygous ...
café-au-lait maculesLZTR1Neurofibromatosis type 1Noonan syndromeSchwannomatosisPurpose Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple caf茅-au-lait ...