Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
|
31825158 |
2020 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LZTR1 have been identified in glioblastoma, schwannomatosis, and Noonan syndrome.
|
31337872 |
2020 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Considering the implication of LZTR1 in sporadic tumors of the nervous system, we hypothesize that gliomas are a possible complication of LZTR1-related Noonan syndrome.
|
30664951 |
2020 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
|
29959388 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in LZTR1 (MIM:600574) have been described in a few patients with Noonan syndrome (NS).
|
31533111 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
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.
|
30859559 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified eight LZTR1 variants, including a de novo variant, in seven probands who were suspicious for NS and one known de novo PPP1CB variant in a patient with NS.
|
30368668 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Moreover, two compound heterozygous missense mutations in the LZTR1 gene were identified in one patient with the Noonan syndrome phenotype and HCM.
|
30732632 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two classes of germline LZTR1 mutations underlie dominant and recessive forms of NS, while constitutional monoallelic, mostly inactivating, mutations in the same gene cause schwannomatosis, a cancer-prone disorder clinically distinct from NS.
|
30481304 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%).
|
31219622 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern.
|
29469822 |
2018 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern.
|
29469822 |
2018 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We found that Lztr1 haploinsufficiency in mice recapitulates Noonan syndrome phenotypes, whereas LZTR1 loss in Schwann cells drives dedifferentiation and proliferation.
|
30442762 |
2018 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
We found that Lztr1 haploinsufficiency in mice recapitulates Noonan syndrome phenotypes, whereas LZTR1 loss in Schwann cells drives dedifferentiation and proliferation.
|
30442762 |
2018 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
|
25795793 |
2015 |
Noonan Syndrome
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
|
25795793 |
2015 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
|
25795793 |
2015 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |