Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications-Reference-Cited by-同舟云学术

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Published:2020-08-12 Issue:1 Volume:29 Page:51-60
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lissewski Christina^ORCID,Chune Valérie,Pantaleoni Francesca^ORCID,De Luca Alessandro^ORCID,Capri Yline,Brinkmann Julia^ORCID,Lepri Francesca,Daniele Paola,Leenders Erika,Mazzanti Laura^ORCID,Scarano Emanuela,Radio Francesca Clementina^ORCID,Kutsche Kerstin,Kuechler Alma,Gérard Marion,Ranguin Kara^ORCID,Legendre Marine,Vial Yoann^ORCID,van der Burgt Ineke,Rinne Tuula^ORCID,Andreucci Elena^ORCID,Mastromoro Gioia^ORCID,Digilio Maria Cristina,Cave Hélène^ORCID,Tartaglia Marco^ORCID,Zenker Martin^ORCID

Funder

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

European Joint Programme on Rare Diseases

Ministero della Salute

ERN-ITHACA networking coordinator of HCP AUO S.Orsola ERN ITHACA, Bologna, Italy

Associazione Italiana per la Ricerca sul Cancro

ERN-ITHACA networking European Joint Programme on Rare Diseases

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s41431-020-00708-6.pdf

Reference23 articles.

1. Grant AR, Cushman BJ, Cave H, Dillon MW, Gelb BD, Gripp KW, et al. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018;39:1485–93.

2. Bhoj EJ, Yu Z, Guan Q, Ahrens-Nicklas R, Cao K, Luo M, et al. Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genet Med. 2017;19:715–8.

3. Cizmarova M, Hlinkova K, Bertok S, Kotnik P, Duba HC, Bertalan R, et al. New mutations associated with rasopathies in a Central European population and genotype-phenotype correlations. Ann Hum Genet. 2016;80:50–62.

4. Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, et al., Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Hum Mutat. 2015;36:1080–7.

5. Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015;52:413–21.

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1. Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature;Genes;2024-09-10

2. Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285;Molecular Syndromology;2024-08-22

3. Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project;BMC Genomics;2024-05-16

4. Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci;Schizophrenia Bulletin;2023-05-10

5. Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing;Journal of Neurosurgical Sciences;2023-05

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