TY  - JOUR
AB  - ßIV-spectrin is a protein of the spectrin family which is involved in the organization of the cytoskeleton structure and is found in high quantity in the axon initial segment and the nodes of Ranvier. Together with ankyrin G, ßIV-spectrin is responsible for the clustering of KCNQ2/3-potassium channels and NaV-sodium channels. Loss or reduction of ßIV-spectrin causes a destabilization of the cytoskeleton and an impairment in the generation of the action potential, which leads to neuronal degeneration. Furthermore, ßIV-spectrin has been described to play an important role in the maintenance of the neuronal polarity and of the diffusion barrier. ßIV-spectrin is also located in the heart where it takes an important part in the structural organization of ion channels and has also been described to participate in cell signaling pathways through binding of transcription factors. We describe two patients with a severe form of ßIV-spectrin deficiency. Whole-exome sequencing revealed the homozygous stop mutation c.6016C>T (p.R2006*) in the SPTBN4 gene. The phenotype of these patients is characterized by profound psychomotor developmental arrest, respiratory insufficiency and deafness. Additionally one of the patients presents with cardiomyopathy, optical nerve atrophy, and mitochondrial dysfunction. This is the first report of a severe form of ßIV-spectrin deficiency with hypertrophic cardiomyopathy and mitochondrial dysfunction.
AU  - Belkheir, Aziza Miriam
AU  - Reunert, Janine
AU  - Elpers, Christiane
AU  - Heuvel, Lambert van den
AU  - Rodenburg, Richard
AU  - Seelhöfer, Anja
AU  - Rust, Stephan
AU  - Jeibmann, Astrid
AU  - Frosch, Michael
AU  - Marquardt, Thorsten
DA  - 2021-04-27
DO  - 10.17879/72089663660
KW  - ßIV-spectrin deficiency
KW  - mitochondrial dysfunction
KW  - neurodegeneration
KW  - cardiomyopathy
KW  - psychomotor developmental arrest
KW  - case report
LA  - eng
N1  - Frontiers in Neurology 12 (2021), 643805, 1-10
N1  - Finanziert durch den Open-Access-Publikationsfonds der Westfälischen Wilhelms-Universität Münster (WWU Münster).
PY  - 2021-04-27
TI  - Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report
UR  - https://nbn-resolving.org/urn:nbn:de:hbz:6-12079556706
Y2  - 2024-11-22T04:29:50
ER  -