ReviewBMC medical genomics2022
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Review in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults.Cancers · 2026Article
- Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.The Journal of clinical endocrinology and metabolism · 2026Article
- PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.PLoS genetics · 2025Article
- Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Familial cancer · 2025Review
- Article
- Protein-losing enteropathy and multiple vasculature dysplasia inWorld journal of gastroenterology · 2025Review
- Genetic Basis and Clinical Management of Schwannomatosis.Journal of Korean Neurosurgical Society · 2025Article
- Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.Biomedicines · 2025Article
- An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supportsGenetics in medicine open · 2025Article
- Familial schwannomatosis carryingMolecular genetics and metabolism reports · 2024Article
- Phenotypic Expansion of Autosomal DominantGenes · 2024Review
- Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronicMolecular therapy. Nucleic acids · 2024Article
- LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.Frontiers in neurology · 2024Article
- The molecular genetics of RASopathies: An update on novel disease genes and new disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNoonan 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 pattern and management strategy has not been fully elucidated. Here, we review the contribution of LZTR1 in NS and describe a patient with a novel, likely pathogenic variant in LZTR1. CASE PRESENTATION: A female patient was diagnosed with clinical NS at 8 months of age. She presented in adulthood when a brain and spine MRI identified plexiform neurofibromas; however, she did not meet the clinical criteria for Neurofibromatosis type 1. No pathogenic variants were identified through molecular genetic analysis of NF1, SPRED1 and a multigene NS panel. Whole exome sequencing at age 23 identified a novel de novo likely pathogenic heterozygous variant in the LZTR1 gene denoted as c.743G>A (p.Gly248Glu). Serial MRIs have shown stable imaging findings and the patient is being followed clinically by cardiology, neurology and medical genetics.
conclusionsWe identified a novel mutation in the LZTR1 gene, not previously reported in association with NS. This report provides additional evidence to support for the assessment of schwannomatosis in patients with LZTR1-NS and may have overlap with Neurofibromatosis type 1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.