Search

Your search keyword '"Hartmann, Silke"' showing total 11 results
Start Over Author "Hartmann, Silke"
11 results on '"Hartmann, Silke"'

3. Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex

Author

Falb, Ruth J, primary, Müller, Amelie J, additional, Klein, Wolfram, additional, Grimmel, Mona, additional, Grasshoff, Ute, additional, Spranger, Stephanie, additional, Stöbe, Petra, additional, Gauck, Darja, additional, Kuechler, Alma, additional, Dikow, Nicola, additional, Schwaibold, Eva M C, additional, Schmidt, Christoph, additional, Averdunk, Luisa, additional, Buchert, Rebecca, additional, Heinrich, Tilman, additional, Prodan, Natalia, additional, Park, Joohyun, additional, Kehrer, Martin, additional, Sturm, Marc, additional, Kelemen, Olga, additional, Hartmann, Silke, additional, Horn, Denise, additional, Emmerich, Dirk, additional, Hirt, Nina, additional, Neumann, Armin, additional, Kristiansen, Glen, additional, Gembruch, Ulrich, additional, Haen, Susanne, additional, Siebert, Reiner, additional, Hentze, Sabine, additional, Hoopmann, Markus, additional, Ossowski, Stephan, additional, Waldmüller, Stephan, additional, Beck-Wödl, Stefanie, additional, Gläser, Dieter, additional, Tekesin, Ismail, additional, Distelmaier, Felix, additional, Riess, Olaf, additional, Kagan, Karl-Oliver, additional, Dufke, Andreas, additional, and Haack, Tobias B, additional

Published
2021
Full Text
View/download PDF

4. Bi-allelic loss-of-function variants in KIF21Acause severe fetal akinesia with arthrogryposis multiplex

Author

Falb, Ruth J, Mu¨ller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Sto¨be, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmu¨ller, Stephan, Beck-Wo¨dl, Stefanie, Gla¨ser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, and Haack, Tobias B

Abstract

BackgroundFetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved.MethodsWe performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a common feature.ResultsWe identified likely pathogenic or pathogenic variants in 12 different established disease genes explaining the disease phenotype in 13 index cases and report 12 novel variants. In the unsolved families, a search for recessive-type variants affecting the same gene was performed; and in five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21Agene (KIF21A) was found.ConclusionOur study underlines the broad locus heterogeneity of FA with well-established and atypical genotype–phenotype associations. We describe KIF21Aas a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.

Published
2023
Full Text
View/download PDF

11. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Author

Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, and Haack TB

Subjects
Humans, Animals, Swine, Mutation genetics, Loss of Heterozygosity, Fetus, Phenotype, Pedigree, Kinesins genetics, Arthrogryposis genetics, Arthrogryposis pathology
Abstract

Background: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved., Methods: We performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a common feature., Results: We identified likely pathogenic or pathogenic variants in 12 different established disease genes explaining the disease phenotype in 13 index cases and report 12 novel variants. In the unsolved families, a search for recessive-type variants affecting the same gene was performed; and in five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene ( KIF21A ) was found., Conclusion: Our study underlines the broad locus heterogeneity of FA with well-established and atypical genotype-phenotype associations. We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results