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Tytuł pozycji:

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Tytuł:
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Autorzy:
Stenton SL; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Kulterer L; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Kopajtich R; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Ciara E; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Eisen J; Klinikum Frankfurt Höchst, Frankfurt, Germany.
Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Pronicka E; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Malczyk K; Department of Diagnostic Imaging, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Wagner M; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Wortmann SB; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Radboud Centre for Mitochondrial Diseases (RCMM), Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Źródło:
Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 310-319. Date of Electronic Publication: 2021 Jan 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: New York : Wiley-Liss, c1992-
MeSH Terms:
Leigh Disease*/genetics
Mitochondrial Diseases*/genetics
Optic Atrophy*/genetics
Humans ; Phenotype ; Exome Sequencing
References:
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7(4), 248-249.
Beilschmidt, L. K., & Puccio, H. M. (2014). Mammalian Fe-S cluster biogenesis and its implication in disease. Biochimie, 100, 48-60.
Cnop, M., Mulder, H., & Igoillo-Esteve, M. (2013). Diabetes in Friedreich ataxia. Journal of Neurochemistry, 126, 94-102.
Coelho, M. P., Correia, J., Dias, A., Nogueira, C., Bandeira, A., Martins, E., & Vilarinho, L. (2019). Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria. JIMD Reports, 49(1), 11-16.
Ewen, K. M., Kleser, M., & Bernhardt, R. (2011). Adrenodoxin: the archetype of vertebrate-type [2Fe-2S] cluster ferredoxins. Biochimica et Biophysica Acta (BBA)-Proteins and Proteomics, 1814(1), 111-125.
Ferreira, C. R., van Karnebeek, C. D., Vockley, J., & Blau, N. (2019). A proposed nosology of inborn errors of metabolism. Genetics in Medicine, 21(1), 102-106.
Filla, A., DeMichele, G., Caruso, G., Marconi, R., & Campanella, G. (1990). Genetic data and natural history of Friedreich's disease: A study of 80 Italian patients. Journal of Neurology, 237(6), 345-351.
Hwang, P. M., Bunz, F., Yu, J., Rago, C., Chan, T. A., Murphy, M. P., Kelso, G. F., Smith, R. A. J., Kinzler, K. W., & Vogelstein, B. (2001). Ferredoxin reductase affects p53-dependent, 5-fluorouracil-induced apoptosis in colorectal cancer cells. Nature Medicine, 7(10), 1111-1117.
Johnson, D. C., Dean, D. R., Smith, A. D., & Johnson, M. K. (2005). Structure, function, and formation of biological iron-sulfur clusters. Annual Review of Biochemistry, 74, 247-281.
Jung, Y. S., Gao-Sheridan, H. S., Christiansen, J., Dean, D. R., & Burgess, B. K. (1999). Purification and biophysical characterization of a new [2Fe-2S] ferredoxin from Azotobacter vinelandii, a putative [Fe-S] cluster assembly/repair protein. Journal of Biological Chemistry, 274(45), 32402-32410.
Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., Koňaříková, E., Repp, B., Kastenmüller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., … Prokisch, H. (2017). Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature Communications, 8(1), 1-11.
Kumar, P., Henikoff, S., & Ng, P. C. (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols, 4(7), 1073-1081.
Lin, D., Shi, Y. F., & Miller, W. L. (1990). Cloning and sequence of the human adrenodoxin reductase gene. Proceedings of the National Academy of Sciences, 87(21), 8516-8520.
Manzella, L., Barros, M. H., & Nobrega, F. G. (1998). ARH1 of Saccharomyces cerevisiae: a new essential gene that codes for a protein homologous to the human adrenodoxin reductase. Yeast, 14(9), 839-846.
Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., Mahieu, L., Bouccara, D., Kaplan, J., Challe, G., Domange, C., Mochel, F., Sterkers, O., Gerber, S., … Marlin, S. (2017). FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases. The American Journal of Human Genetics, 101(4), 630-637.
Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J. S., Rosenfeld, J., Truitt Cho, M., Chamberlin, A., Li, Z., Liu, J., Gui, B., Brockhage, R., Basinger, A., Alvarez-Leon, B., Heydemann, P., Magoulas, P. L., Lewis, A. M., Scaglia, F., Gril, S., … Huang, T. (2017). Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Human Molecular Genetics, 26(24), 4937-4950.
Phoenix, C., Schaefer, A. M., Elson, J. L., Morava, E., Bugiani, M., Uziel, G., Smeitink, J. A., Turnbull, D. M., & McFarland, R. (2006). A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders, 16(12), 814-820.
Pronicka, E., Piekutowska-Abramczuk, D., Ciara, E., Trubicka, J., Rokicki, D., Karkucińska-Więckowska, A., Pajdowska, M., Jurkiewicz, E., Halat, P., Kosińska, J., Pollak, A., Rydzanicz, M., Stawinski, P., Pronicki, M., Krajewska-Walasek, M., & Płoski, R. (2016). New perspective in diagnostics of mitochondrial disorders: Two years’ experience with whole-exome sequencing at a national paediatric centre. Journal of Translational Medicine, 14(1), 174.
Rahman, S., Blok, R. B., Dahl, H. H., Danks, D. M., Kirby, D. M., Chow, C. W., & Thorburn, D. R. (1996). Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Annals of Neurology: Official. Journal of the American Neurological Association and the Child Neurology Society, 39(3), 343-351.
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019). CADD: Predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Research, 47(D1), D886-D894.
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., & Rehm, H. L. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genetics in Medicine, 17(5), 405-423.
Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., & Rustin, P. (1997). Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genetics, 17(2), 215-217.
Slone, J., Peng, Y., Chamberlin, A., Harris, B., Kaylor, J., McDonald, M. T., Lemmon, M., El-Dairi, M. A., Tchapyjnikov, D., Gonzalez-Krellwitz, L. A., Sellars, E. A., McConkie-Rosell, A., Reinholdt, L. G., & Huang, T. (2018). Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Journal of Human Genetics, 63(12), 1211-1222.
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human mutation, 36(10), 928-930.
Stehling, O., Wilbrecht, C., & Lill, R. (2014). Mitochondrial iron-sulfur protein biogenesis and human disease. Biochimie, 100, 61-77.
Stenton, S. L., & Prokisch, H. (2020). Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine, 56, 102784.
Tan, J., Wagner, M., Stenton, S. L., Strom, T. M., Wortmann, S. B., Prokisch, H., Meitinger, T., Oexle, K., & Klopstock, T. (2020). Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine, 54, 102730.
Contributed Indexing:
Keywords: functional validation; leigh syndrome; mitochondrial disease; phenotype; variant of uncertain significance
Entry Date(s):
Date Created: 20201221 Date Completed: 20220331 Latest Revision: 20221207
Update Code:
20240105
DOI:
10.1002/humu.24160
PMID:
33348459
Czasopismo naukowe
Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile-onset encephalopathy, to milder movement disorders. In total nine individual pathogenic variants, of which seven were novel, were identified in FDXR using whole exome sequencing in suspected mitochondrial disease patients. Over 80% of these variants are missense, a challenging variant class in which to determine pathogenic consequence, especially in the setting of nonspecific phenotypes and in the absence of a reliable biomarker, necessitating functional validation. Here we implement an Arh1-null yeast model to confirm the pathogenicity of variants of uncertain significance in FDXR, bypassing the requirement for patient-derived material.
(© 2020 The Authors. Human Mutation Published by Wiley Periodicals LLC.)

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