Science & Education

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist

  1. Science & Education

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Welcome to the knowledge portal of CENTOGENE – a resource to explore scientific research and clinical diagnostic findings in the area of human genetics. Bookmark this page for future reference and watch for updates.

CENTOGENE is dedicated to providing the global medical community with the latest news and opportunities to connect with each other, giving physicians and researchers the information they need to improve the lives of cancer and/or hereditary disease-affected patients around the world.

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Latest Scientific Articles

  • Noonan syndrome

    Noonan syndrome (NS) is a rare autosomal dominant disease characterized by short stature, characteristic facies, congenital heart defect, and developmental delay. NS is one of the most common birth defects, with an estimated incidence of 1 in1,000 to 1 in 2,500 births. Noonan syndrome belongs to the group of diseases called “RASopathies” e.g. disorders of development characterized by broad clinical and geneticc heterogeneity. RASopathies are caused by germline mutations in those genes that encode RAS family of proteins, e.g. mitogen-activated protein kinases, protein that control signal transduction, participate in development and tumorigenesis.

  • Pheochromocytoma

    Pheochromocytomas (PCC) and paragangliomas (PGL) are rare catecholamine-secreting tumors that arise from the chromaffin cells of the adrenal medulla and/or from extra-adrenal sympathetic and parasympathetic paraganglia. Approximately 30% of all pheochromocytomas/paragangliomas (PGL/PCC) occur as a part of hereditary syndromes including von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1). The prevalence of pheochromocytoma/paraganglioma is not precisely determined, but incidence is approximately 1:300,000/year.

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.

  • Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype

    Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. We conclude that the p.Ile239Met GLA mutation is a pathogenic mutation for FD associated with predominant cardiac phenotype.

  • Mental retardation X-linked

    Intellectual disability (ID), also referred to as mental retardation (MR), is a lifelong disability that presents in infancy/early childhood and it is characterized by below-average intelligence and a lack of skills essential for every-day life. People with intellectual disabilities can learn new skills, but they learn them more slowly. The average IQ (intelligence quotient) is 100, with the majority of people scoring between 85 and 115. A person is considered intellectually disabled if he/she has an IQ of less than 70.

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP) refers to a group of rare inherited diseases characterized by abnormalities of the photoreceptors of the retina, leading to progressive visual loss. The prevalence of retinitis pigmentosa is 1:3000 to 1:7000 persons, or 14 to 33 per 100,000. Retinitis pigmentosa that does not affect other organs or tissues is classified as non-syndromic or “simple” and if it is associated with neurosensory systems such as hearing it is classified as systemic retinitis pigmentosa.

  • Spastic paraplegia

    Hereditary Spastic Paraplegia (HSP), also known as SPG (Spastic Paraplegia) is a group of inherited neurological diseases whose main feature is progressive spasticity in the lower limbs as a result of neuronal dysfunction. The condition sometimes also affects the optic nerve and retina or causes cataracts, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The prevalence of HSP/SPG has been estimated to range from 1.3 in 100,000 affected patients in Ireland 3 to 9.6 in 100,000 patients in Spain.

  • Autoimmune lymphoproliferative syndrome

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disease caused by abnormal lymphocyte homeostasis. ALPS is characterized by non-malignant lymphoproliferation, splenomegaly, and autoimmune cytopenia. ALPS-affected patients have a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

  • Afibrinogenemia

    Congenital afibrinogenemia is a rare inherited disease resulting from a defect in fibrinogen and characterized by uncontrolled bleeding. The most common manifestations of afibrinogenemia include umbilical cord bleeding, nose-bleeds (epistaxis), hemarthrosis and others. Uncontrolled bleeding in people with congenital afibrinogenemia results from abnormal process of blood clotting.

  • Tuberous sclerosis

    Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous benign tumors in different body parts, including skin, brain, kidneys, and other organs. The diagnosis of TSC is based on clinical findings, but genetic background of the disease is also very common. Thus, heterozygous pathogenic variants can be identified in 75-90% of individuals who meet the clinical diagnostic criteria for TSC.