D. Seelow, M. Schuelke, F. Hildebrandt, and P. Nürnberg, HomozygosityMapperan interactive approach to homozygosity mapping, Nucleic Acids Res, vol.37, pp.593-599, 2009.

A. Fiser and S. A. Modeller, Generation and refinement of homology-based protein structure models, Methods Enzymol, vol.374, pp.461-491, 2003.

M. Y. Shen and A. Sali, Statistical potential for assessment and prediction of protein structures, Protein Sci, vol.15, issue.11, pp.2507-2524, 2006.

R. A. Laskowski, M. W. Macarthur, D. S. Moss, and J. M. Thornton, PROCHECK-a program to check the stereochemical quality of protein structures, J Appl Cryst, vol.26, pp.283-291, 1993.

M. A. Senetar, C. L. Moncman, and R. O. Mccann, Talin2 is induced during striated muscle differentiation and is targeted to stable adhesion complexes in mature muscle, Cell Motil Cytoskeleton, vol.64, issue.3, pp.157-173, 2007.

N. T. Chen and S. H. Lo, The N-terminal half of talin2 is sufficient for mouse development and survival, Biochem Biophys Res Commun, vol.337, issue.2, pp.670-676, 2005.

E. Debrand, F. J. Conti, N. Bate, L. Spence, D. Mazzeo et al., Mice carrying a complete deletion of the talin2 coding sequence are viable and fertile, Biochem Biophys Res Commun, vol.2012, issue.2, pp.190-195

C. Gurrieri, K. Nafa, T. Merghoub, R. Bernardi, P. Capodieci et al., Mutations of the PML tumor suppressor gene in acute promyelocytic leukemia, Blood, vol.103, issue.6, pp.2358-2362, 2004.

P. C. Ng and S. Henikoff, SIFT: Predicting amino acid changes that affect protein function, Nucleic Acids Res, vol.31, issue.13, pp.3812-3814, 2003.

V. Ramensky, P. Bork, and S. Sunyaev, Human non-synonymous SNPs: server and survey, Nucleic Acids Res, vol.30, issue.17, pp.3894-3900, 2002.

S. S. Krishna, I. Majumdar, and N. V. Grishin, Structural classification of zinc fingers: survey and summary, Nucleic Acids Res, vol.31, issue.2, pp.532-550, 2003.

J. M. Matthews and M. Sunde, Zinc fingers-folds for many occasions, IUBMB Life, vol.54, issue.6, pp.351-355, 2002.

S. V. Razin, V. V. Borunova, O. G. Maksimenko, and O. L. Kantidze, Cys2His2 zinc finger protein family: classification, functions, and major members, Biochem Biokhimiia, vol.77, issue.3, pp.217-226, 2012.

R. O. Emerson and J. H. Thomas, Adaptive evolution in zinc finger transcription factors, PLoS Genet, vol.5, issue.1, p.1000325, 2009.

S. A. Wolfe, L. Nekludova, and C. O. Pabo, DNA recognition by Cys2His2 zinc finger proteins, Annu Rev Biophys Biomol Struct, vol.29, pp.183-212, 2000.

G. Bejerano, M. Pheasant, I. Makunin, S. Stephen, W. J. Kent et al., Ultraconserved elements in the human genome, Science, vol.304, issue.5675, pp.1321-1325, 2004.

D. J. Segal, J. W. Crotty, M. S. Bhakta, C. F. Barbas, and N. C. Horton, Structure of Aart, a designed six-finger zinc finger peptide, bound to DNA, J Mol Biol, vol.363, issue.2, pp.405-421, 2006.

T. Kleefstra, H. G. Yntema, A. R. Oudakker, M. Banning, V. M. Kalscheuer et al., Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation, J Med Genet, vol.41, issue.5, pp.394-399, 2004.

D. Lugtenberg, H. G. Yntema, M. Banning, A. R. Oudakker, H. V. Firth et al., ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation, Am J Hum Genet, vol.78, issue.2, pp.265-278, 2006.

P. S. Tarpey, R. Smith, E. Pleasance, A. Whibley, S. Edkins et al., A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation, Nat Genet, vol.41, issue.5, pp.535-543, 2009.

C. Pak, M. Garshasbi, K. Kahrizi, C. Gross, L. H. Apponi et al., Kuss AW: Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans, Proc Natl Acad Sci, vol.108, issue.30, pp.12390-12395, 2011.

T. A. Peterson, A. Adadey, I. Santana-cruz, Y. Sun, A. Winder et al., DMDM: domain mapping of disease mutations, Bioinformatics, vol.26, issue.19, pp.2458-2459, 2010.

J. D. Cody, M. Hasi, B. Soileau, P. Heard, E. Carter et al., Establishing a reference group for distal 18q-: clinical description and molecular basis, Hum Genet, vol.133, pp.199-209, 2014.

A. Dostal, J. Nemeckova, R. Gaillyova, V. Vranova, D. Zezulkova et al., Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization, Otol Neurotol, vol.27, issue.3, pp.427-432, 2006.

C. M. Ren, Y. Liang, F. Wei, Y. N. Zhang, S. Q. Zhong et al., Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism, Biochim Biophys Acta, vol.1832, issue.3, pp.431-438, 2013.

S. Chun and J. C. Fay, Identification of deleterious mutations within three human genomes, Genome Res, vol.19, issue.9, pp.1553-1561, 2009.

S. Chun and J. C. Fay, Evidence for hitchhiking of deleterious mutations within the human genome, PLoS Genet, vol.7, issue.8, p.1002240, 2011.

. Kambouris, Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome, Orphanet Journal of Rare Diseases, vol.9, p.80, 2014.
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