Sarcomas are a group of rare cancers that mainly affect young people. We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. We showed that 21.5% of these patients had harmful genetic variants that could raise the risk of developing […]
Latest articles
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders (Contributed by Kevin Riquin)
Genetic testing plays a crucial role in diagnosing neurodevelopmental disorders (NDD). Geneticists continuously explore new methods, such as genome sequencing (GS), to improve diagnostic accuracy. However, some genetic variations detected by GS are challenging to understand. To address this, we combined GS with RNA-Seq, a technique that provides extra information about how these variations affect […]
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome (Contributed by Professor Jie-Wei Luo)
Hereditary renal cell carcinoma (RCC) accounts for 5% of renal cancers and is mostly autosomal dominant inheritance. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt–Hogg–Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. Over 200 families with HLRCC and over 600 families with BHD have been […]
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes (Contributed by Dr. Catherine Goudie)
Cancer predisposition syndromes (CPSs) are genetic conditions that increase the risk of developing cancer throughout life. It is sometimes difficult for doctors to recognize various types of CPSs in their patients. Recently, an app called MIPOGG was created to help clinicians identify which of their pediatric cancer patients could have a CPS. In this study, […]
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)
SUMOylation is a type of protein modification occurring in the cell. It includes the attachment of Small Ubiquitin-like Modifier (SUMO) to large sets of proteins to regulate their function. Abnormalities in protein SUMOylation are linked with various disease states, however, knowledge of the specific roles of the SUMOylation machinery in human disease is limited. In […]
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel (Contributed by Prof. Rani Elkon)
Large-scale genetic studies conducted over the last decade discovered dozens of genetic variants that are associated with increased risk for breast cancer (BC). These BC-risk variants can be used to calculate a genetic risk score (called ‘polygenic risk score’ – PRS) which has the predictive capacity to detect women with significantly elevated genetic risk for […]
Mutation in Mitral Valve Prolapse Susceptible Gene DCHS1 Causes Familial Mitral Annular Disjunction (Contributed by Nan ZHOU MD.,PhD.)
Mitral annular disjunction (MAD) is supposed to be the anatomic substrate of mitral valve prolapse (MVP) and ventricular arrhythmias, whereas little is known about its molecular genesis, if any. Herein, we conducted the initial genetic screening among sporadic and familial MAD cases. Our findings supported that longitudinally extensive MAD, rather than MAD with any distance, […]
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases (Contributed by Drs. Lili Liang and Lianshu Han)
Methylmalonic academia is the most common inherited organic acid metabolic disease in China, which is usually considered to have a poor prognosis. We recruited a large cohort of 365 mut-type MMA patients, investigated their phenotype and genotype. Participation in tandem mass spectrometry expanded newborn screening, vitamin B12 responsive and late onset are favorable factors for […]
Congenital mirror movements are associated with defective polymerisation of RAD51 (Contributed by Drs Caroline Dubacq and Oriane Trouillard)
To date, only few mutations in the RAD51 gene were associated to Congenital Mirror Movements (CMM), a rare genetic disorder for which affected patients cannot perform unimanual or asymmetric bimanual movements. In our study, identification of new mutations in RAD51 allowed to confirm haploinsufficiency of RAD51 in CMM and to demonstrate that compensation at the […]
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants (Contributed by Murat Alpaslan, M.Sc.)
Many genes have been linked to primary lymphedema, yet they currently explain only about 30% of the patients. Moreover, there is no cure for the disease yet. A better understanding of the underlying causes should enable the development of novel therapeutic approaches. In this study, we have detailed the clinical phenotype of patients with CELSR1 […]