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30

Ingénieur de Recherche Institut Pasteur


 

Crystel Bonnet

Née le 10 juillet 1973

Mariée, 2 enfants

 

CURSUS UNIVERSITAIRE ET PARCOURS PROFESSIONNEL

 

 

¨       Depuis Janv 2020 : Ingénieur de recherche confirmé, Institut Pasteur, Institut de l’Audition

                       Sujet: Presbyacousie: identifier les gènes responsables de surdité liée à l'âge.

¨       2010-2019 : Ingénieur de recherche Unité de Génétique et Physiologie de l’Audition

INSERM UMRS1120, Institut Pasteur et Institut de la Vision.

                       Sujet: Identification des mutations causales chez des patients présentant une surdité isolée et/ou                               syndromique.

¨       2008-2010 : Stage post-doctoral (Paris VI, Hôpital Trousseau). Direction : F. Denoyelle.

Laboratoire Unité de Génétique des déficits sensoriels INSERM UMRS587.

                       Sujet : Séquençage des 9 gènes Usher connus : divergence génotype/phénotype et recherche de                  digénisme

¨       2004-2008 : Stage post-doctoral (Paris VI, Hôpital St-Antoine). Direction : M. Corral-Debrinski. Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine. INSERM U592.

Sujet : Localisation des ARNm à la surface mitochondriale : outil de diagnostic et de traite-                        ment des dégénérescences rétiniennes

¨       2002-2004 : Stage post-doctoral (Paris XI). Direction : V. Berteaux-Lecellier. Laboratoire Reproduction Sexuée, Traduction et Différenciation. Institut de Génétique et Microbiologie UMR 8621.

Sujet : Rôle du peroxysome dans la différenciation cellulaire chez le champignon filamenteux Podospora anserina

¨       1998-2001 : Thèse de l'Université Pierre et Marie Curie (Paris VI). Direction : P. Denoulet Laboratoire de Biochimie Cellulaire, UMR 7098, Université Paris VI

                       Sujet : Etude des interactions entre les tubulines et leurs protéines associées : rôle de la polyglutamylation dans la régulation de ces interactions (soutenue le 21 décembre 2001)

¨       1997-1998 : 3ème année du magistère de Biologie-Biochimie (ENS Ulm)

                       DEA "Structure, Fonction et Ingénierie des Protéines" (Paris VI). Direction : P. Denoulet, Laboratoire de Biochimie Cellulaire, UPR 9065, Collège de France

Sujet : Purification de MAP1A murine : régulation de sa liaison à la tubuline par la polygluta-                     mylation

Brevet

Importation of mitochondrial protein by an enhanced allotopic approach. M. Corral-Debrinski, J.-A. Sahel, V. Kaltimbacher, C. Bonnet N°: PCT/EP 2006/005323. Date de Dépôt : 05/06/08.

 

Prix : Obtention de la bourse de la Fédération des Aveugles et Handicapés Visuels de France, 2005.

 

Collaboration

- Collaboration Hubert Curien Tassili- Akila Zenati- Laboratoire of Biochimie génétique – Université d'Alger- Faculté de Médecine ; CHU de Bab-El-Oued- Bd Said Touati - Alger

- Collaboration Institut Pasteur de Tunis- Sonia Abdelhak- Laboratoire de Génomique Biomédicale et Oncogénétique-Tunis

- Treatrush Consortium

 

Encadrement

Encadrement de M1, M2, Doctorant, Post-Doctorant, Ingénieur

- Sophie Boucher, M2 

- Zied Riahi, Doctorant

- Samia Abdi, Doctorante

- Asma Behlouli, Doctorante

- Mouna Hadrami, Doctorante

- Malika Dahmani, Doctorante

- Sonia Talbi, Doctorante


Journal articles30 documents

  • Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, et al.. Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family. Human Heredity, Karger, In press, 85 (1), pp.35-39. ⟨10.1159/000512712⟩. ⟨pasteur-03219602⟩
  • Ghita Amalou, Crystel Bonnet, Zied Riahi, Aymane Bouzidi, Soukaina Elrharchi, et al.. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. International Journal of Pediatric Otorhinolaryngology, Elsevier, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩. ⟨pasteur-03215242⟩
  • Baptiste Colcombet-Cazenave, Karen Druart, Crystel Bonnet, Christine Petit, Olivier Spérandio, et al.. Phylogenetic analysis of Harmonin homology domains. BMC Bioinformatics, BioMed Central, 2021, 22 (1), pp.190. ⟨10.1186/s12859-021-04116-5⟩. ⟨hal-03200406⟩
  • Léo Varnet, Agnès Léger, Sophie Boucher, Crystel Bonnet, Christine Petit, et al.. Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis. Frontiers in Aging Neuroscience, Frontiers, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩. ⟨pasteur-03219614⟩
  • Léo Varnet, Agnès Léger, Sophie Boucher, Crystel Bonnet, Christine Petit, et al.. Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis. Frontiers in Aging Neuroscience, Frontiers, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩. ⟨hal-03154679⟩
  • Mouna Hadrami, Crystel Bonnet, Christina Zeitz, Fatimetou Veten, Med Biya, et al.. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.. Molecular Vision, Molecular Vision, 2021, 25, pp.373-381. ⟨pasteur-03219621⟩
  • Malika Dahmani, Sonia Talbi, Fatima Ammar-Khodja, Sofiane Ouhab, Farid Boudjenah, et al.. ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology, Elsevier, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩. ⟨pasteur-03219608⟩
  • Olaia Subirà, Jaume Català-Mora, Jesús Díaz-Cascajosa, Noel Padrón-Pérez, M. Claveria, et al.. Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. Eye, Nature Publishing Group: Open Access Hybrid Model Option B, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩. ⟨pasteur-03219607⟩
  • Sophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, Andrea Lelli, Amrit Singh-Estivalet, et al.. Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩. ⟨pasteur-03215054⟩
  • Amale Bousfiha, Zied Riahi, Lamiae Elkhattabi, Amina Bakhchane, Hicham Charoute, et al.. Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness. Human Heredity, Karger, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩. ⟨pasteur-03219615⟩
  • Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, et al.. Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation. Genes, MDPI, 2019, 10 (12), pp.1015. ⟨10.3390/genes10121015⟩. ⟨hal-02417524⟩
  • Sonia Talbi, Crystel Bonnet, Farid Boudjenah, Mohammed Tahar Mansouri, Christine Petit, et al.. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩. ⟨pasteur-03219629⟩
  • Marwa Sayeb, Zied Riahi, Nadia Laroussi, Crystel Bonnet, Lilia Romdhane, et al.. A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene. International Journal of Dermatology, Wiley-Blackwell, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩. ⟨pasteur-03219630⟩
  • Katarina Stingl, Anne Kurtenbach, Gesa Hahn, Christoph Kernstock, Stephanie Hipp, et al.. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. Documenta Ophthalmologica, Springer Verlag, 2019, 139 (2), pp.151-160. ⟨10.1007/s10633-019-09704-8⟩. ⟨pasteur-03219625⟩
  • Mouna Hadrami, Crystel Bonnet, Fatimetou Veten, Christina Zeitz, Christel Condroyer, et al.. A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family. European Journal of Ophthalmology, Wichtig Editore, In press, ⟨10.1177/1120672118804757⟩. ⟨hal-01990091⟩
  • Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, et al.. Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes, MDPI, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩. ⟨hal-02408154⟩
  • Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, et al.. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. American Journal of Human Genetics, Elsevier (Cell Press), 2017, ⟨10.1016/j.ajhg.2017.09.007⟩. ⟨hal-02391701⟩
  • Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, et al.. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩. ⟨pasteur-03215026⟩
  • Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, Hala El Hachmi, Crystel Bonnet, et al.. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1266 - 1270. ⟨10.1016/j.ajhg.2016.04.015⟩. ⟨hal-01329650⟩
  • Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, et al.. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS ONE, Public Library of Science, 2016, 11 (9), pp.e0161893. ⟨10.1371/journal.pone.0161893⟩. ⟨hal-01388303⟩
  • Malika Dahmani, Fatima Ammar-Khodja, Crystel Bonnet, Gaëlle M Lefèvre, Jean-Pierre Hardelin, et al.. EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10 (1), pp.96. ⟨10.1186/s13023-015-0316-8⟩. ⟨hal-01188064⟩
  • Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, et al.. Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.. PLoS ONE, Public Library of Science, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩. ⟨pasteur-01221041⟩
  • Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, et al.. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.. PLoS ONE, Public Library of Science, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩. ⟨pasteur-01060192⟩
  • Lilia Romdhane, Nizar Ben Halim, Insaf Rejeb, Rym Kefi, Yosra Bouyacoub, et al.. Specific aspects of consanguinity: some examples from the tunisian population.. Human Heredity, Karger, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩. ⟨pasteur-01061190⟩
  • Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, et al.. EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.. Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.55. ⟨10.1186/1750-1172-9-55⟩. ⟨inserm-00986102⟩
  • Elise Pepermans, Michel Vittot, Richard Goodyear, Crystel Bonnet, Samia Abdi, et al.. The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. EMBO Molecular Medicine, Wiley Open Access, 2014, 6 (7), pp.984-92. ⟨10.15252/emmm.201403976⟩. ⟨pasteur-01237053⟩
  • Zied Riahi, Houda Chahed, Habib Jaafoura, Rim Zainine, Olfa Messaoud, et al.. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.. International Journal of Pediatric Otorhinolaryngology, Elsevier, 2013, 77 (9), pp.1485-8. ⟨10.1016/j.ijporl.2013.06.015⟩. ⟨pasteur-00861211⟩
  • Zied Riahi, Rim Zainine, Yosra Mellouli, Raja Hannachi, Yosra Bouyacoub, et al.. Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.. International Journal of Pediatric Otorhinolaryngology, Elsevier, 2013, 77 (9), pp.1481-4. ⟨10.1016/j.ijporl.2013.06.013⟩. ⟨pasteur-00860772⟩
  • Sedigheh Delmaghani, Asadollah Aghaie, Nicolas Michalski, Crystel Bonnet, Dominique Weil, et al.. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.. Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩. ⟨pasteur-01472843⟩
  • Crystel Bonnet, M'Hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, et al.. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.. Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩. ⟨pasteur-00663885⟩