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 […]
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
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
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
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
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
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 […]
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
X-linked Alport syndrome (XLAS) is an hereditary kidney disease caused by the pathogenic variants in COL4A5 gene and usually has heterogeneous phenotypes, especially in females. Here, we collected the genetic, clinical, and pathological data from a cohort of XLAS and conducted a comparative analysis of female and male patients. We found a higher incidence of […]
A model for the return and referral of all clinically significant secondary findings of genomic sequencing
Genomic sequencing (GS) has the capability of identifying a broad range of clinically significant secondary findings (SFs) beyond medically actionable findings. Healthcare resources and capacity constraints of returning and managing all clinically significant SFs represent major barriers to implementation of GS. We present a model for the return and referral of all clinically significant SFs […]
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
RNA polymerase III-related or 4H (POLR3-HLD) is a genetic disorder that affects the white matter of the brain. It is caused by disease-causing variants in POLR3A, POLR3B, POLR1C or POLR3K. To this date, description of craniofacial features in individuals with POLR3-HLD is limited. Here, we explore and assess the craniofacial features of 31 patients with […]
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Lung disease is the major cause of illness and death in individuals with osteogenesis imperfecta (OI), a collagen-related bone disorder. Previously, scoliosis and chest wall deformities were considered responsible for abnormal lung function in OI. We studied children and adults with several types of OI using lung function tests, X-Rays and lung CTs. Most patients […]