LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

Noonan 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 full...

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Bibliographic Details
Published in:BMC medical genomics 2022-07, Vol.15 (1), p.1-160, Article 160
Main Authors: Farncombe, Kirsten M., Thain, Emily, Barnett-Tapia, Carolina, Sadeghian, Hamid, Kim, Raymond H.
Format: Article
Language:English
Subjects:
Age
Case Report
Causes of
Congenital diseases
Development and progression
Diagnosis
Genes
Genetic analysis
Genetic disorders
Genomes
Growth hormones
Health aspects
Heredity
LZTR1
Magnetic resonance imaging
Medical laboratories
Molecular genetics
Mutation
Neurofibromas
Neurofibromatosis
Neuroimaging
Noonan syndrome
Noonan's syndrome
Patients
Recklinghausen's disease
Whole exome sequencing
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Description
Summary:Noonan 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. We 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.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-022-01304-x