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12 results on '"Weidensee, Sabine"'

1. PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Author

Kampmeier, Antje, primary, Leitão, Elsa, additional, Parenti, Ilaria, additional, Beygo, Jasmin, additional, Depienne, Christel, additional, Bramswig, Nuria C, additional, Hsieh, Tzung-Chien, additional, Afenjar, Alexandra, additional, Beck-Wödl, Stefanie, additional, Grasshoff, Ute, additional, Haack, Tobias B, additional, Bijlsma, Emilia K, additional, Ruivenkamp, Claudia, additional, Lausberg, Eva, additional, Elbracht, Miriam, additional, Haanpää, Maria K, additional, Koillinen, Hannele, additional, Heinrich, Uwe, additional, Rost, Imma, additional, Jamra, Rami Abou, additional, Popp, Denny, additional, Koch-Hogrebe, Margarete, additional, Rostasy, Kevin, additional, López-González, Vanesa, additional, Sanchez-Soler, María José, additional, Macedo, Catarina, additional, Schmetz, Ariane, additional, Steinborn, Carmen, additional, Weidensee, Sabine, additional, Lesmann, Hellen, additional, Marbach, Felix, additional, Caro, Pilar, additional, Schaaf, Christian P., additional, Krawitz, Peter, additional, Wieczorek, Dagmar, additional, Kaiser, Frank J, additional, and Kuechler, Alma, additional

Published
2023
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4. Correction: Diagnostic value of partial exome sequencing in developmental disorders

Author

Gieldon, Laura, primary, Mackenroth, Luisa, additional, Kahlert, Anne-Karin, additional, Lemke, Johannes R., additional, Porrmann, Joseph, additional, Schallner, Jens, additional, von der Hagen, Maja, additional, Markus, Susanne, additional, Weidensee, Sabine, additional, Novotna, Barbara, additional, Soerensen, Charlotte, additional, Klink, Barbara, additional, Wagner, Johannes, additional, Tzschach, Andreas, additional, Jahn, Arne, additional, Kuhlee, Franziska, additional, Hackmann, Karl, additional, Schrock, Evelin, additional, Di Donato, Nataliya, additional, and Rump, Andreas, additional

Published
2020
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5. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Author

Abdelfattah, Fatima, primary, Kariminejad, Ariana, additional, Kahlert, Anne‐Karin, additional, Morrison, Patrick J., additional, Gumus, Evren, additional, Mathews, Katherine D., additional, Darbro, Benjamin W., additional, Amor, David J., additional, Walsh, Maie, additional, Sznajer, Yves, additional, Weiß, Luisa, additional, Weidensee, Sabine, additional, Chitayat, David, additional, Shannon, Patrick, additional, Bermejo‐Sánchez, Eva, additional, Riaño‐Galán, Isolina, additional, Hayes, Ian, additional, Poke, Gemma, additional, Rooryck, Caroline, additional, Pennamen, Perrine, additional, Khung‐Savatovsky, Suonavy, additional, Toutain, Annick, additional, Vuillaume, Marie‐Laure, additional, Ghaderi‐Sohi, Siavash, additional, Kariminejad, Mohamad H., additional, Weinert, Sönke, additional, Sticht, Heinrich, additional, Zenker, Martin, additional, and Schanze, Denny, additional

Published
2020
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6. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Abdelfattah, Fatima, Kariminejad, Ariana, Kahlert, Anne-Karin, Morrison, Patrick J, Gumus, Evren, Mathews, Katherine D, Darbro, Benjamin W, Amor, David J, Walsh, Maie, Sznajer, Yves, Weiß, Luisa, Weidensee, Sabine, Chitayat, David, Shannon, Patrick, Bermejo-Sánchez, Eva, Riaño-Galán, Isolina, Hayes, Ian, Poke, Gemma, Rooryck, Caroline, Pennamen, Perrine, Khung-Savatovsky, Suonavy, Toutain, Annick, Vuillaume, Marie-Laure, Ghaderi-Sohi, Siavash, Kariminejad, Mohamad H, Weinert, Sönke, Sticht, Heinrich, Zenker, Martin, Schanze, Denny, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Abdelfattah, Fatima, Kariminejad, Ariana, Kahlert, Anne-Karin, Morrison, Patrick J, Gumus, Evren, Mathews, Katherine D, Darbro, Benjamin W, Amor, David J, Walsh, Maie, Sznajer, Yves, Weiß, Luisa, Weidensee, Sabine, Chitayat, David, Shannon, Patrick, Bermejo-Sánchez, Eva, Riaño-Galán, Isolina, Hayes, Ian, Poke, Gemma, Rooryck, Caroline, Pennamen, Perrine, Khung-Savatovsky, Suonavy, Toutain, Annick, Vuillaume, Marie-Laure, Ghaderi-Sohi, Siavash, Kariminejad, Mohamad H, Weinert, Sönke, Sticht, Heinrich, Zenker, Martin, and Schanze, Denny

Abstract

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders. We identified likely disease-causing variants in the PHGDH and PSAT1 genes, several of which have not been reported previously. Phenotype analysis and a comprehensive review of the literature corroborates the evidence that serine biosynthesis disorders represent a continuum with varying degrees of phenotypic expression and suggest that even gradual differences at the severe end of the spectrum may be correlated with particular genotypes. We postulate that the individual residual enzyme activity of mutant proteins is the major determinant of the phenotypic variability, but further functional studies are needed to explore effects at the enzyme protein level.

Published
2020

7. Diagnostic value of partial exome sequencing in developmental disorders

Author

Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, and Rump, Andreas

Subjects
Male, Molecular biology, Imaging Techniques, Developmental Disabilities, DNA Mutational Analysis, Gene Identification and Analysis, lcsh:Medicine, Gene Sequencing, Genes, Recessive, Nervous System Malformations, Research and Analysis Methods, Diagnostic Radiology, Cohort Studies, Sequencing techniques, Autosomal Recessive Diseases, Pregnancy, Diagnostic Medicine, Intellectual Disability, Exome Sequencing, Medicine and Health Sciences, Genetics, Humans, Abnormalities, Multiple, Exome, DNA sequencing, lcsh:Science, Child, Mutation Detection, Clinical Genetics, Biology and life sciences, Radiology and Imaging, lcsh:R, Genetic Variation, Human Genetics, Sequence Analysis, DNA, Syndrome, Magnetic Resonance Imaging, Phenotype, Molecular biology techniques, Genetic Diseases, Face, Mutation, lcsh:Q, Female, Anatomy, Head, Research Article
Abstract

Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less sequencing capacities. Within this context 106 patients with different intellectual disability forms were analyzed for mutations in 4.813 genes after pre-exclusion of copy number variations by array-CGH. Subsequent variant interpretation was performed in accordance with the ACMG guidelines. By this, a molecular diagnosis was established in 34% of cases and candidate mutations were identified in additional 24% of patients. Detection rates of causative mutations were above 30%, regardless of further symptoms, except for patients with seizures (23%). We did not detect an advantage from partial exome sequencing for patients with severe intellectual disability (36%) as compared to those with mild intellectual disability (44%). Specific clinical diagnoses pre-existed for 20 patients. Of these, 5 could be confirmed and an additional 6 cases could be solved, but showed mutations in other genes than initially suspected. In conclusion partial exome sequencing solved >30% of intellectual disability cases, which is similar to published rates obtained by whole exome sequencing. The approach therefore proved to be a valid alternative to whole exome sequencing for molecular diagnostics in this cohort. The method proved equally suitable for both syndromic and non-syndromic intellectual disability forms of all severity grades.

Published
2018

9. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Author

Nasser, Fadi, Kurtenbach, Anne, Biskup, Saskia, Weidensee, Sabine, Kohl, Susanne, and Zrenner, Eberhart

Subjects
RETINITIS pigmentosa, GENETIC testing, OPTICAL coherence tomography, COLOR vision, NONSENSE mutation, MYOPIA
Abstract

Purpose: The aim of this study is to report on the phenotype and genotype of five patients diagnosed with Cohen syndrome, an extremely rare autosomal recessive disorder manifesting with mental and physiological defects. Methods: Five patients from three German families and one Syrian family underwent a comprehensive ophthalmological examination. The scheduled visual acuity measurements, fundus ophthalmoscopy, spectral domain optical coherence tomography (OCT), full‐field electrophysiological recordings of scotopic and photopic electroretinograms (ERGs) and colour vision testing could not be carried out in all subjects, because of the mental and physical retardation. The genetic diagnosis was achieved by next‐generation sequencing. Results: The ophthalmic and systemic phenotype of the patients is typical for Cohen syndrome including myopia, night blindness, photophobia, fundus pigmentary changes and bull's eye maculopathy. Electroretinograms (ERGs) were extinguished in the four patients, whose recording was possible. Genetic testing revealed homozygous or two heterozygous bi‐allelic mutations in the VPS13B (COH1) gene in all five patients, with five different allelic variants observed. The homozygous mutation c.6055_6056delGA; p.Asp2019Glnfs*15 in two sibling patients as well as the homozygous nonsense mutation c.8112C>G;p.Tyr2704* have not previously been reported. Conclusions: The phenotype of the five patients reported here is typical for Cohen syndrome; however, their genotype is heterogeneous. Two new allelic variants were found to be the causative mutation. [ABSTRACT FROM AUTHOR]

Published
2020
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12. Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/ KRIT1 germline mutation.

Author

Dammann, Philipp, Hehr, Ute, Weidensee, Sabine, Zhu, Yuan, Gerlach, Rüdiger, and Sure, Ulrich

Subjects
GERM cells, GENETIC mutation, DISEASE progression, SOMATIC mutation, PHYSIOLOGY
Abstract

Cerebral cavernous malformations are focal vascular abnormalities that show recurrent intralesional microhemorrhage and may cause focal deficits or seizures in affected patients. These lesions occur in both sporadic and inherited autosomal dominant form. Germline mutations in three different genes have been identified yet. One explanation for the unpredictable individual clinical course with wide variability of the number of developing cerebral cavernous malformations (CCMs) and their rate of progression within CCM families is thought to be based upon a 'two-hit' mechanism. However, the direct influence of a heterozygous underlying germline mutation in combination with secondary somatic mutations on a patient's individual clinical course is hard to investigate in vivo. In this context, we present a rare and interesting case of monozygotic twins heterozygous for the CCM1 germline mutation c.730-1G>A and discuss their similar age and type of disease manifestation and their beginning divergent clinical course. [ABSTRACT FROM AUTHOR]

Published
2013
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