Scientific Publications

Novel Genetic Cause for Absence of Kidneys

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the American Society of Nephrology, the leading journal for kidney research.

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the American Society of Nephrology, the leading journal for kidney research.

BiodatabankNephrologyWESWGS

Author(s): Arora, Veronica

04 Oct, 2020

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A Dx Success Story Showing the Clinical Utility of Genomic Testing as a First-Line Diagnostic Test

In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period with immediate impact on clinical management in the majority of these young patients. A scientific study detailing the findings was published in NPJ Genomic Medicine.

Genetic disorders are prevalent in many developing countries, but access to genomic testing is limited. In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period. Of note, there were immediate steps that could be taken regarding clinical management in the majority of these young patients. A scientific study detailing the findings was published in NPJ Genomic Medicine.

WESWGS

Author(s): Cheema, Huma Arshad

04 Oct, 2020

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Characterizing a Rare Disease Through a Global Effort

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.

BiodatabankNeurologyWESWGS

Author(s): Ebrahimi-Fakhari, Darius

25 Sep, 2020

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Recognition of CENTOGENE’s Scientific Expertise

Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an honor. It was a pleasure for CENTOGENE’s Chief Genomic Officer Prof. Peter Bauer and his team to contribute the Editorial for the current issue of the Journal of Biochemical and Clinical Genetics.

Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an honor. It was a pleasure for CENTOGENE’s Chief Genomic Officer Prof. Peter Bauer and his team to contribute the Editorial for the current issue of the Journal of Biochemical and Clinical Genetics.

BiodatabankNGSWESWGS

Author(s): Beetz, Christian

19 Sep, 2020

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Genetics and Pathophysiology of Premature Aging

Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s mutation database and biobank, was published in the prestigious journal Nature Communications.

Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s mutation database and biobank, was published in the prestigious journal Nature Communications.

BiodatabankWESWGS

Author(s): Elouej, Sahar

10 Sep, 2020

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A Variant-Specific Mutational Effect

A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.

A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.

BiodatabankNeurologyWESWGS

Author(s): Ghosh, Shereen G

07 Sep, 2020

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Large Patient Cohort Enables Insights into a Rare Disease

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.

BiodatabankBiomarkerMetabolic DisordersWES

Author(s): Mahmoud, Iman G.

18 Aug, 2020

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Unlocking the Genetics of Seizures

Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE.

Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE. The study, which confirms recent similar observations, was published in the Journal of Medical Genetics.

BiodatabankNeurologyWESWGS

Author(s): Maroofian, Reza, PhD

26 Jul, 2020

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A Novel Disorder of Nerve Cell Communication

Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.

Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.

BiodatabankNeurologyWESWGS

Author(s): Neuray, Caroline

22 Jul, 2020

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A New Phenotype for a Known Neurological Disorder

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia. This novel observation, to which CENTOGENE contributed the genetic data, was published in the European Journal of Medical Genetics.

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia.

BiodatabankNeurologyNGSWES

Author(s): Kloth, Katja

22 Jun, 2020

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Novel Causes for Heart Malformations

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database – CentoMD® – identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a detailed clinical characterization, was described in the European Journal of Human Genetics.

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database – CentoMD® – identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a detailed clinical characterization, was described in the European Journal of Human Genetics.

BiodatabankCardiovascularNGSWESWGS

Author(s): Massadeh, Salam

18 May, 2020

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Manifestation and Progression of an Ultra-Rare Disorder

Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was extensively described in the European Journal of Medical Genetics.

Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was extensively described in the European Journal of Medical Genetics.

BiodatabankHepatologyWESWGS

Author(s): Rios-Flores, Izabel Maryalexandra

14 May, 2020

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Consanguinity and Recessive Disorders

High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological disorders.

High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological disorders.

BiodatabankNeurologyWESWGS

Author(s): Hengel, Holger, Dr. med.

24 Mar, 2020

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Genetics of the Blood-Brain Barrier

Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.

Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.

BiodatabankNeurologyWESWGS

Author(s): Schottlaender, Lucia V

04 Mar, 2020

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Insights Into an Ultra Rare Disease

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.

BiodatabankNeurologyWESWGS

Author(s): Cardoso-Dos-Santos, Augusto César

31 Jan, 2020

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