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1. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, and Visser, WE

Abstract

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

2. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

Author

Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS

Abstract

[This corrects the article DOI: 10.1002/acn3.725.].

Published
2019

3. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Author

Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS

Abstract

OBJECTIVES: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi-allelic pathogenic variants in MTFMT. METHODS: Retrospective cohort study combining new cases and previously published cases. RESULTS: Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases. The median age of presentation was 14 months (range: birth to 17 years, interquartile range [IQR] 4.5 years), with developmental delay and motor symptoms being the most frequent initial manifestation. Twenty-nine percent of the patients survived into adulthood. MRI headings in MTFMT pathogenic variants included symmetrical basal ganglia changes (62%), periventricular and subcortical white matter abnormalities (55%), and brainstem lesions (48%). Isolated complex I and combined respiratory chain deficiencies were identified in 31% and 59% of the cases, respectively. Reduction of the mitochondrial complex I and complex IV subunits was identified in the fibroblasts (13/13). Sixteen pathogenic variants were identified, of which c.626C>T was the most common. Seventy-four percent of the patients were alive at their last clinical review (median 6.8 years, range: 14 months to 31 years, IQR 14.5 years). INTERPRETATION: Patients that harbour pathogenic variants in MTFMT have a milder clinical phenotype and disease progression compared to LS caused by other nuclear defects. Fibroblasts may preclude the need for muscle biopsy, to prove causality of any novel variant.

Published
2019

5. Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Author

Theunissen, T E J, Nguyen, M, Kamps, R, Hendrickx, AT, Sallevelt, S, Gottschalk, RWH, Calis, CM, Stassen, APM, Koning, BAE, Mulder-Den Hartog, E N M, Schoonderwoerd, Kees, Fuchs, SA, Hilhorst-Hofstee, Y, Visser, M, Vanoevelen, J, Szklarczyk, R, Gerards, M, de Coo, IFM, Hellebrekers, D, Smeets, HJM, Theunissen, T E J, Nguyen, M, Kamps, R, Hendrickx, AT, Sallevelt, S, Gottschalk, RWH, Calis, CM, Stassen, APM, Koning, BAE, Mulder-Den Hartog, E N M, Schoonderwoerd, Kees, Fuchs, SA, Hilhorst-Hofstee, Y, Visser, M, Vanoevelen, J, Szklarczyk, R, Gerards, M, de Coo, IFM, Hellebrekers, D, and Smeets, HJM

Published
2018

7. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, BM, Mastantuono, E, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Ding, WH, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJM, Wittig, I, Scurr, I, Coo, IFM, Moroni, I, Smet, J, Mayr, JA, Dai, LF, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, RJ, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, TM, Herberg, U, Ahting, U, Sperl, W, Nassogne, MC, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S, Repp, BM, Mastantuono, E, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Ding, WH, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJM, Wittig, I, Scurr, I, Coo, IFM, Moroni, I, Smet, J, Mayr, JA, Dai, LF, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, RJ, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, TM, Herberg, U, Ahting, U, Sperl, W, Nassogne, MC, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, and Wortmann, S

Published
2018

9. Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Author

Yadak, Rana, Cabrera-Perez, R, Torres-Torronteras, J, Bugiani, M, Haeck, Joost, Huston, MW, Taal, Elly, Goffart, S, Jacobs, Ed, Stok, M, Leonardelli, L, Biasco, L, Verdijk, Rob, Bernsen, Monique, Ruijter, GJG, Marti, R, Wagemaker, G, Til, NP, Coo, IFM, Yadak, Rana, Cabrera-Perez, R, Torres-Torronteras, J, Bugiani, M, Haeck, Joost, Huston, MW, Taal, Elly, Goffart, S, Jacobs, Ed, Stok, M, Leonardelli, L, Biasco, L, Verdijk, Rob, Bernsen, Monique, Ruijter, GJG, Marti, R, Wagemaker, G, Til, NP, and Coo, IFM

Published
2018

10. Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Author

Theunissen, T E J, Gerards, M, Hellebrekers, D, van Tienen, FH, Kamps, R, Sallevelt, S, Hartog, E, Scholte, Jasper, Verdijk, Rob, Schoonderwoerd, Kees, Coo, IFM, Szklarczyk, R, Smeets, HJM, Theunissen, T E J, Gerards, M, Hellebrekers, D, van Tienen, FH, Kamps, R, Sallevelt, S, Hartog, E, Scholte, Jasper, Verdijk, Rob, Schoonderwoerd, Kees, Coo, IFM, Szklarczyk, R, and Smeets, HJM

Published
2017

12. Human mutations in integrator complex subunits link transcriptome integrity to brain development

Author

Oegema, Renske, Baillat, D, Schot, Rachel, Unen, Leontine, Brooks, Alice, Kheradmand Kia, Sima, Hoogeboom, Jeannette, Xia, Z, Li, W, Cesaroni, M, Lequin, MH, van Slegtenhorst, Marjon, Dobyns, WB, Coo, IFM, Verheijen, Frans, Kremer, Andreas, van der Spek, Peter, Heijsman, Daphne, Wagner, EJ, Fornerod, M.W.J., Verheijen - Mancini, Grazia, Oegema, Renske, Baillat, D, Schot, Rachel, Unen, Leontine, Brooks, Alice, Kheradmand Kia, Sima, Hoogeboom, Jeannette, Xia, Z, Li, W, Cesaroni, M, Lequin, MH, van Slegtenhorst, Marjon, Dobyns, WB, Coo, IFM, Verheijen, Frans, Kremer, Andreas, van der Spek, Peter, Heijsman, Daphne, Wagner, EJ, Fornerod, M.W.J., and Verheijen - Mancini, Grazia

Published
2017

13. International Paediatric Mitochondrial Disease Scale

Author

Koene, S, Hendriks, JCM, Dirks, I, Boer, L, de Vries, MC, Janssen, MCH, Smuts, I, Fung, C W, Wong, V C N, Coo, IFM, Vill, K, Stendel, C, Klopstock, T, Falk, MJ, McCormick, E M, McFarland, R, de Groot, IJM, Smeitink, JAM, Koene, S, Hendriks, JCM, Dirks, I, Boer, L, de Vries, MC, Janssen, MCH, Smuts, I, Fung, C W, Wong, V C N, Coo, IFM, Vill, K, Stendel, C, Klopstock, T, Falk, MJ, McCormick, E M, McFarland, R, de Groot, IJM, and Smeitink, JAM

Published
2016

14. Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Author

Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, Smeets, HJM, Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, and Smeets, HJM

Published
2016

15. Smad1/5/8 are myogenic regulators of murine and human mesoangioblasts

Author

Costamagna, D, Quattrocelli, M, van Tienen, F, Umans, L, Coo, IFM, Zwijsen, A, Huylebroeck, Danny, Sampaolesi, M, Costamagna, D, Quattrocelli, M, van Tienen, F, Umans, L, Coo, IFM, Zwijsen, A, Huylebroeck, Danny, and Sampaolesi, M

Abstract

Mesoangioblasts (MABs) are vessel-associated stem cells that express pericyte marker genes and participate in skeletal muscle regeneration. Molecular circuits that regulate the myogenic commitment of MABs are still poorly characterized. The critical role of bone morphogenetic protein (BMP) signalling during proliferation and differentiation of adult myogenic precursors, such as satellite cells, has recently been established. We evaluated whether BMP signalling impacts on the myogenic potential of embryonic and adult MABs both in vitro and in vivo. Addition of BMP inhibited MAB myogenic differentiation, whereas interference with the interactions between BMPs and receptor complexes induced differentiation. Similarly, siRNA-mediated knockdown of Smad8 in Smad1/5-null MABs or inhibition of SMAD1/5/8 phosphorylation with Dorsomorphin (DM) also improved myogenic differentiation, demonstrating a novel role of SMAD8. Moreover, using a transgenic mouse model of Smad8 deletion, we demonstrated that the absence of SMAD8 protein improved MAB myogenic differentiation. Furthermore, once injected into alpha-Sarcoglycan (Sgca)-null muscles, DM-treated MABs were more efficacious to restore alpha-sarcoglycan (alpha SG) protein levels and re-establish functional muscle properties. Similarly, in acute muscle damage, DM-treated MABs displayed a better myogenic potential compared with BMP-treated and untreated cells. Finally, SMADs also control the myogenic commitment of human MABs (hMABs). BMP signalling antagonists are therefore novel candidates to improve the therapeutic effects of hMABs.

Published
2016

16. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome

Author

Meuwissen, Marije, Schot, Rachel, Buta, S, Oudesluijs, Grietje, Tinschert, S, Speer, SD, Li, Z, Unen, Leontine, Heijsman, Daphne, Goldmann, T, Lequin, MH, Kros, J.M., Stam, W (Wendy), Hermann, M, Willemsen, Rob, Brouwer, Rutger, van Ijcken, Wilfred, Martin-Fernandez, M, Coo, IFM, Dudink, J, Vries, Femke, Bertoli Avella, AM, Prinz, M, Crow, YJ, Verheijen, Frans, Pellegrini, S, Bogunovic, D, Verheijen - Mancini, Grazia, Meuwissen, Marije, Schot, Rachel, Buta, S, Oudesluijs, Grietje, Tinschert, S, Speer, SD, Li, Z, Unen, Leontine, Heijsman, Daphne, Goldmann, T, Lequin, MH, Kros, J.M., Stam, W (Wendy), Hermann, M, Willemsen, Rob, Brouwer, Rutger, van Ijcken, Wilfred, Martin-Fernandez, M, Coo, IFM, Dudink, J, Vries, Femke, Bertoli Avella, AM, Prinz, M, Crow, YJ, Verheijen, Frans, Pellegrini, S, Bogunovic, D, and Verheijen - Mancini, Grazia

Published
2016

17. How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models

Author

van Gisbergen, MW, Voets, AM, Starmans, MHW, Coo, IFM, Yadak, Rana, Hoffmann, RF, Boutros, PC, Smeets, HJM, Dubois, L, Lambin, P, van Gisbergen, MW, Voets, AM, Starmans, MHW, Coo, IFM, Yadak, Rana, Hoffmann, RF, Boutros, PC, Smeets, HJM, Dubois, L, and Lambin, P

Abstract

Several mutations in nuclear genes encoding for mitochondrial components have been associated with an increased cancer risk or are even causative, e.g. succinate dehydrogenase (SDHB, SDHC and SDHD genes) and iso-citrate dehydrogenase (IDH1 and IDH2 genes). Recently, studies have suggested an eminent role for mitochondrial DNA (mtDNA) mutations in the development of a wide variety of cancers. Various studies associated mtDNA abnormalities, including mutations, deletions, inversions and copy number alterations, with mitochondrial dysfunction. This might, explain the hampered cellular bioenergetics in many cancer cell types. Germline (e.g. m.10398A>G; m.6253T>C) and somatic mtDNA mutations as well as differences in mtDNA copy number seem to be associated with cancer risk. It seems that mtDNA can contribute as driver or as complementary gene mutation according to the multiple-hit model. This can enhance the mutagenic/clonogenic potential of the cell as observed for m.8993T>G or influences the metastatic potential in later stages of cancer progression. Alternatively, other mtDNA variations will be innocent passenger mutations in a tumor and therefore do not contribute to the tumorigenic or metastatic potential. In this review, we discuss how reported mtDNA variations interfere with cancer treatment and what implications this has on current successful pharmaceutical interventions. Mutations in MT-ND4 and mtDNA depletion have been reported to be involved in cisplatin resistance. Pharmaceutical impairment of OXPHOS by metformin can increase the efficiency of radiotherapy. To study mitochondrial dysfunction in cancer, different cellular models (like p(o) cells or cybrids), in vivo murine models (xenografts and specific mtDNA mouse models in combination with a spontaneous cancer mouse model) and small animal models (e.g. Danio rerio) could be potentially interesting to use. For future research, we foresee that unraveling mtDNA variations can contribute to personalized therapy

Published
2015

18. A multicenter study on Leigh syndrome: disease course and predictors of survival

Author

Sofou, K, Coo, IFM, Isohanni, P, Ostergaard, E, Naess, K, de Meirleir, L, Tzoulis, C, Uusimaa, J, de Angst, Isabel, Lonnqvist, T, Pihko, H, Mankinen, K, Bindoff, LA, Tulinius, M, Darin, N, Sofou, K, Coo, IFM, Isohanni, P, Ostergaard, E, Naess, K, de Meirleir, L, Tzoulis, C, Uusimaa, J, de Angst, Isabel, Lonnqvist, T, Pihko, H, Mankinen, K, Bindoff, LA, Tulinius, M, and Darin, N

Abstract

Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. Methods: This is a retrospective study of patients with Leigh syndrome that have been followed at eight centers specialising in mitochondrial diseases in Europe; Gothenburg, Rotterdam, Helsinki, Copenhagen, Stockholm, Brussels, Bergen and Oulu. Results: A total of 130 patients were included (78 males; 52 females), of whom 77 patients had identified pathogenic mutations. The median age of disease onset was 7 months, with 80.8% of patients presenting by the age of 2 years. The most common clinical features were abnormal motor findings, followed by abnormal ocular findings. Epileptic seizures were reported in 40% of patients. Approximately 44% of patients experienced acute exacerbations requiring hospitalisation during the previous year, mainly due to infections. The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses. Increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course, characterised by early onset before 6 months of age, acute exacerbations and/or relapses, as well as brainstem involvement. 39% of patients had died by the age of 21 years, at a median age of 2.4 years. Disease onset before 6 months of age, failure to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. Conclusions: This is a multicenter study performed in a larg

Published
2014

19. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Author

van de Kamp, JM, Pouwels, PJW, Aarsen, Femke, ten Hoopen, L, Knol, DL, Klerk, Hans, Coo, IFM, Huijmans, Jan, Jakobs, C, van der Knaap, MS, Salomons, GS, Verheijen - Mancini, Grazia, van de Kamp, JM, Pouwels, PJW, Aarsen, Femke, ten Hoopen, L, Knol, DL, Klerk, Hans, Coo, IFM, Huijmans, Jan, Jakobs, C, van der Knaap, MS, Salomons, GS, and Verheijen - Mancini, Grazia

Published
2012

20. Combined cardiological and neurological abnormalities due to filamin A gene mutation

Author

de Wit, Marie Claire, Coo, IFM, Lequin, MH, Halley, Dicky, Roos - Hesselink, Jolien, Verheijen - Mancini, Grazia, de Wit, Marie Claire, Coo, IFM, Lequin, MH, Halley, Dicky, Roos - Hesselink, Jolien, and Verheijen - Mancini, Grazia

Abstract

Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We noticed that some patients diagnosed at the neurogenetics clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected. From the Erasmus MC cerebral malformations database 24 patients were identified with cerebral bilateral periventricular nodular heterotopia (PNH) without other cerebral cortical malformations. In six of these patients, a pathogenic mutation in FLNA was present. In five a cardiac defect was also found in the outflow tract. Four had presented to a cardiologist before the cerebral abnormalities were diagnosed. The cardiological phenotype typically consists of aortic or mitral regurgitation, coarctation of the aorta or other left-sided cardiac malformations. Most patients in this category will not have a FLNA mutation, but the presence of neurological complaints, hyperlaxity of the skin or joints and/or a family history with similar cardiac or neurological problems in a possibly X-linked pattern may alert the clinician to the possibility of a FLNA mutation.

Published
2011

21. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Author

Gerards, M (Mike), Sluiter, Wim, van den Bosch, BJC, Wit, Elly, Calis, CMH, Frentzen, M, Akbari, H, Schoonderwoerd, Kees, Scholte, Jasper, Jongbloed, RJ, Hendrickx, ATM, Coo, IFM, Smeets, HJM, Gerards, M (Mike), Sluiter, Wim, van den Bosch, BJC, Wit, Elly, Calis, CMH, Frentzen, M, Akbari, H, Schoonderwoerd, Kees, Scholte, Jasper, Jongbloed, RJ, Hendrickx, ATM, Coo, IFM, and Smeets, HJM

Abstract

Background Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene. Methods and results A consanguineous Moroccan family with Leigh syndrome comprise 11 children, three of which are affected. Marker analysis revealed a homozygous region of 11.5 Mb on chromosome 20, containing 111 genes. Eight possible mitochondrial candidate genes were sequenced. Patients were homozygous for an unclassified variant (p.P193L) in the cardiolipin synthase gene (CRLS1). As this variant was present in 20% of a Moroccan control population and enzyme activity was only reduced to 50%, this could not explain the rare clinical phenotype in our family. Patients were also homozygous for an amino acid substitution (p.L159F) in C20orf7, a new complex I assembly factor. Parents were heterozygous and unaffected sibs heterozygous or homozygous wild type. The mutation affects the predicted S-adenosylmethionine (SAM) dependent methyltransferase domain of C20orf7, possibly involved in methylation of NDUFB3 during the assembly process. Blue native gel electrophoresis showed an altered complex I assembly with only 30-40% of mature complex I present in patients and 70-90% in carriers. Conclusions A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations.

Published
2010

22. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Author

Oegema, Renske, de Klein, Annelies, Verkerk, AJMH, Schot, R (Rachel), Dumee, Belinda, Douben, Hannie, Eussen, HJFMM (Bert), Dubbel, RJM (L.), Poddighe, PJ (Pino), De Graaf - van de Laar, Ingrid, Dobyns, WB, van der Spek, Peter, Lequin, MH, Coo, IFM, de Wit, Marie Claire, Wessels, Marja, Verheijen - Mancini, Grazia, Oegema, Renske, de Klein, Annelies, Verkerk, AJMH, Schot, R (Rachel), Dumee, Belinda, Douben, Hannie, Eussen, HJFMM (Bert), Dubbel, RJM (L.), Poddighe, PJ (Pino), De Graaf - van de Laar, Ingrid, Dobyns, WB, van der Spek, Peter, Lequin, MH, Coo, IFM, de Wit, Marie Claire, Wessels, Marja, and Verheijen - Mancini, Grazia

Published
2010

25. Changes in globus pollidus with (pre)term kernicterus

Author

Govaert, PP, Lequin, MH, Swarte, R, Robben, SGF (Simon), Coo, IFM, Kuperus, Nynke, de Rijke, YB, Sinaasappel, M (Maarten), Barkovich, AJ, Govaert, PP, Lequin, MH, Swarte, R, Robben, SGF (Simon), Coo, IFM, Kuperus, Nynke, de Rijke, YB, Sinaasappel, M (Maarten), and Barkovich, AJ

Published
2003

26. Benign familial infantile convulsions: a clinical study of seven Dutch families

Author

Callenbach, PMC, Coo, IFM, Vein, AA, Arts, WFM, Oosterwijk, JC, Hageman, G, ten Houten, R, Terwindt, GM, Lindhout, D (Dick), Frants, RR, Brouwer, OF, Callenbach, PMC, Coo, IFM, Vein, AA, Arts, WFM, Oosterwijk, JC, Hageman, G, ten Houten, R, Terwindt, GM, Lindhout, D (Dick), Frants, RR, and Brouwer, OF

Published
2002

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