R. Bottega, C. Marconi, M. Faleschini, G. Baj, C. Cagioni et al., ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization, Blood, vol.125, issue.5, pp.869-872, 2015.

H. Boutroux, B. David, P. Guéguen, P. Frange, A. Vincenot et al., ACTN1-related Macrothrombocytopenia: A novel entity in the progressing field of pediatric thrombocytopenia, Journal of Pediatric Hematology/Oncology, vol.39, issue.8, pp.515-518, 2017.

J. M. Burkhart, M. Vaudel, S. Gambaryan, S. Radau, U. Walter et al., The first comprehensive and quantitative analysis of human platelet protein composition allows the comparative analysis of structural and functional pathways, Blood, vol.120, issue.15, pp.73-82, 2012.

D. Chakravarty, S. Chakraborti, and P. Chakrabarti, Flexibility in the N-terminal actin-binding domain: Clues from in silico mutations and molecular dynamics, Proteins, vol.83, issue.4, pp.696-710, 2015.

K. Djinovic-carugo, M. Gautel, J. Ylänne, and P. Young, The spectrin repeat: A structural platform for cytoskeletal protein assemblies, FEBS Letters, vol.513, issue.1, pp.119-123, 2002.

M. Faleschini, F. Melazzini, C. Marconi, T. Giangregorio, T. Pippucci et al., ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia, British Journal of Haematology, vol.183, issue.2, pp.276-288, 2018.

D. Fatkin, C. Macrae, T. Sasaki, M. R. Wolff, M. Porcu et al., Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conductionsystem disease, The New England Journal of Medicine, vol.341, issue.23, pp.1715-1724, 1999.

K. S. Foley and P. W. Young, An analysis of splicing, actin-binding properties, heterodimerization and molecular interactions of the non-muscle ?-actinins, The Biochemical Journal, vol.452, issue.3, pp.477-488, 2013.

Y. Gache, F. Landon, and A. Olomucki, Polymorphism of alphaactinin from human blood platelets. Homodimeric and heterodimeric forms, European Journal of Biochemistry, vol.141, issue.1, pp.57-61, 1984.

M. Gimona and R. Mital, The single CH domain of calponin is neither sufficient nor necessary for F-actin binding, Journal of Cell Science, vol.111, pp.1813-1821, 1998.

J. Golji, R. Collins, and M. R. Mofrad, Molecular mechanics of the alpha-actinin rod domain: Bending, torsional, and extensional behavior, PLoS Computational Biology, vol.5, issue.5, 2009.

P. Guéguen, K. Rouault, J. Chen, O. Raguénès, Y. Fichou et al., A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family, PLoS One, vol.8, issue.9, 2013.

J. M. Kaplan, S. H. Kim, K. N. North, H. Rennke, L. A. Correia et al., Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis, Nature Genetics, vol.24, issue.3, pp.251-256, 2000.

M. Kircher, D. M. Witten, P. Jain, B. J. O'roak, G. M. Cooper et al., A general framework for estimating the relative pathogenicity of human genetic variants, Nature Genetics, vol.46, issue.3, pp.310-315, 2014.

C. H. Kos, T. C. Le, S. Sinha, J. M. Henderson, S. H. Kim et al., Mice deficient in alpha-actinin-4 have severe glomerular disease, The Journal of Clinical Investigation, vol.111, issue.11, pp.1683-1690, 2003.

S. Kunishima, Y. Okuno, K. Yoshida, Y. Shiraishi, M. Sanada et al., ACTN1 mutations cause congenital macrothrombocytopenia, American Journal of Human Genetics, vol.92, issue.3, pp.431-438, 2013.

A. C. Murphy, A. J. Lindsay, M. W. Mccaffrey, K. Djinovi?-carugo, and P. W. Young, Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of ?-actinin-1 enhance F-actin association, FEBS Letters, vol.590, issue.6, pp.685-695, 2016.

A. T. Nurden, K. Freson, and U. Seligsohn, Inherited platelet disorders, Haemophilia, vol.18, pp.154-160, 2012.
URL : https://hal.archives-ouvertes.fr/hal-01478129

E. Ribeiro, N. Pinotsis, A. Ghisleni, A. Salmazo, P. Konarev et al., The structure and regulation of human muscle ?-actinin, Cell, vol.159, issue.6, pp.1447-1460, 2014.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., 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, Laboratory Quality Assurance Committee, vol.17, issue.5, pp.405-424, 2015.

B. Saposnik, S. Binard, O. Fenneteau, A. Nurden, P. Nurden et al., Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders, Molecular Genetics and Genomic Medicine, vol.2, issue.4, pp.297-312, 2014.

P. Saultier, L. Vidal, M. Canault, D. Bernot, C. Falaise et al., Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: Ultrastructural and pathogenic features, Haematologica, vol.102, issue.6, pp.1006-1016, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01600750

B. Sjöblom, A. Salmazo, and K. Djinovi?-carugo, Alpha-actinin structure and regulation, Cellular and Molecular Life Sciences, vol.65, issue.17, pp.2688-2701, 2008.

S. K. Westbury, D. K. Shoemark, and A. D. Mumford, ACTN1 variants associated with thrombocytopenia, Platelets, vol.28, issue.6, pp.625-627, 2017.

S. K. Westbury, E. Turro, D. Greene, C. Lentaigne, A. M. Kelly et al., Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders, Genome Medicine, vol.7, issue.1, p.36, 2015.

M. Yasutomi, S. Kunishima, S. Okazaki, A. Tanizawa, S. Tsuchida et al., ACTN1 rod domain mutation associated with congenital macrothrombocytopenia, Annals of Hematology, vol.95, issue.1, pp.141-144, 2016.

A. Vincenot, P. Saultier, and S. Kunishima, Novel ACTN1 variants in cases of thrombocytopenia, Human Mutation, vol.40, pp.2258-2269, 2019.
URL : https://hal.archives-ouvertes.fr/hal-02556150

,

. Appendix-a-actn1 and . Co-investigators,

S. Muller, 14 Bénédicte Neven, 15 Catherine Pouymayou, p.16

, Nathalie Trillot 21 and Karima Yakouben, vol.10, p.1, 1920.