|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LZTR1, already known to be causal in familial schwannomatosis type 2, have been recently involved in a small proportion of patients with autosomal dominant and autosomal recessive Noonan syndrome.
|
30664951 |
2020 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
In the second family, LZTR1-related schwannomatosis was diagnosed in the index case at age 70 after multiple schwannomas surgeries.
|
31128261 |
2019 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
The biggest overlap was with LZTR1-associated schwannomatosis.
|
30523344 |
2019 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants.
|
31425178 |
2019 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
The proportion of cases caused by <i>de novo</i> pathogenic variants is approximately 30% for <i>LZTR1-</i>related schwannomatosis and 10% for <i>SMARCB1-</i>related schwannomatosis.Penetrance is less than 100%.
|
31329710 |
2018 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%).
|
29384852 |
2018 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SMARCB1 or LZTR1 variants were identified in 5/40 (12.5%) and 13/40 (∼32%) patients in the schwannomatosis cohort.
|
29409008 |
2018 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1.
|
30006736 |
2018 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
While isolated vestibular schwannoma or NF2 may be considered in a young individual with a unilateral vestibular schwannoma, this report suggests that LZTR1 -related schwannomatosis be added to this differential diagnosis.
|
28295212 |
2017 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
|
27856782 |
2017 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation.
|
26848914 |
2016 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin (ERM) proteins; mosaicNF2 is due to mosaic phenomena for the NF2 gene, whilst schwannomatosis is caused by coupled germ-line and mosaic mutations either in the SMARCB1 gene [SWNTS1; MIM # 162091] or the LZTR1 gene [SWNTS2; MIM # 615670] both falling within the 22q region and the NF2 gene.
|
27958595 |
2016 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
|
27472264 |
2016 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma, providing further overlap with NF2, and that further causative genes for schwannomatosis remain to be identified.
|
25480913 |
2015 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
In conclusion, our study demonstrates that molecular analysis of LZTR1 may contribute to the molecular characterization of schwannomatosis patients, in addition to NF2 mutational analysis and the detection of chromosome 22 losses in tumor tissue.
|
25335493 |
2015 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin proteins; mosaic or segmental NF2 is because of mosaic phenomena for the NF2 gene, whereas SWNTS is caused by germline and possibly mosaic mutations either in the SMARCB1 gene (SWNTS1; MIM # 162091) or the LZTR1 gene (SWNTS2; MIM # 615670), both falling within the 22q region.
|
26706012 |
2015 |
|
Schwannomatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1.
|
24362817 |
2014 |
|
Schwannomatosis
|
0.600 |
SusceptibilityMutation
|
disease |
ORPHANET |
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
|
24362817 |
2014 |
|
Schwannomatosis
|
0.600 |
Biomarker
|
disease |
CTD_human |
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
|
24362817 |
2014 |