ZFIN ID: ZDB-LAB-170816-2
Lyonnet Lab
PI/Director: Lyonnet, Stanislas
Contact Person: Gordon, Chris
Email: chris.gordon@inserm.fr
URL: http://www.institutimagine.org/en/research/25-research-labs/106-embryology-and-genetics-of-human-malformation.html
Address: Laboratory of Embryology and genetics of human malformations Institut Imagine 24, boulevard du Montparnasse 75015 Paris
Country: France
Phone: + (33) 1 42 75 43 08
Fax:
Line Designation: None assigned


GENOMIC FEATURES ORIGINATING FROM THIS LAB No data available


STATEMENT OF RESEARCH INTERESTS
Embryology and genetics of human malformation
Our research program is aiming to identify genes or non- coding genomic alterations responsible for congenital malformations and answer important questions in clinics, biology and developmental genetics. We have a special interest for tissues derived from the neural crest (neurocristopathies), and ciliopathies.
The neural crest is a transitory embryonic structure that participates to the development of many structures. We have a long lasting interest on the development of the enteric nervous systems and Hirschsprung disease, a model for complex oligogenic and sex-dependent inheritance.
In collaboration with many reference centers for rare diseases on the Necker Hospital campus we also developed research projects on craniofacial (especially mandibulofacial dysostoses), syndromic deafness and cardiac malformations through NGS, in vitro and in vivo analysis in zebra fish and mice.
Ciliopathies are a fast growing group of diseases that are the consequence of an abnormal genesis or functioning of the motile and/or primary cilia. Our work on ciliopathies contributes to the understanding of primary cilium formation and links extreme lethal phenotypes with viable syndromes.


LAB MEMBERS
Gordon, Chris Post-Doc


ZEBRAFISH PUBLICATIONS OF LAB MEMBERS
Agostini, V., Tessier, A., Djaziri, N., Khonsari, R.H., Galliani, E., Kurihara, Y., Honda, M., Kurihara, H., Hidaka, K., Tuncbilek, G., Picard, A., Konas, E., Amiel, J., Gordon, C.T. (2023) Biallelic truncating variants in VGLL2 cause syngnathia in humans. Journal of Medical Genetics. 60(11):1084-1091
Garcia, H., Serafin, A.S., Silbermann, F., Porée, E., Viau, A., Mahaut, C., Billot, K., Birgy, É., Garfa-Traore, M., Roy, S., Ceccarelli, S., Mehraz, M., Rodriguez, P.C., Deleglise, B., Furio, L., Jabot-Hanin, F., Cagnard, N., Del Nery, E., Fila, M., Sin-Monnot, S., Antignac, C., Lyonnet, S., Krug, P., Salomon, R., Annereau, J.P., Benmerah, A., Delous, M., Briseño-Roa, L., Saunier, S. (2022) Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies. Proceedings of the National Academy of Sciences of the United States of America. 119:e2115960119
Szenker-Ravi, E., Ott, T., Khatoo, M., de Bellaing, A.M., Goh, W.X., Chong, Y.L., Beckers, A., Kannesan, D., Louvel, G., Anujan, P., Ravi, V., Bonnard, C., Moutton, S., Schoen, P., Fradin, M., Colin, E., Megarbane, A., Daou, L., Chehab, G., Di Filippo, S., Rooryck, C., Deleuze, J.F., Boland, A., Arribard, N., Eker, R., Tohari, S., Ng, A.Y., Rio, M., Lim, C.T., Eisenhaber, B., Eisenhaber, F., Venkatesh, B., Amiel, J., Crollius, H.R., Gordon, C.T., Gossler, A., Roy, S., Attie-Bitach, T., Blum, M., Bouvagnet, P., Reversade, B. (2021) Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics. 54(1):62-72
Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M., Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V., Lougaris, V., Plebani, A., Altmueller, J., Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F., Bezzina, C.R., Brooks, B.P., Sefiani, A. (2019) Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nature communications. 10:1180
Bhatia, S., Gordon, C.T., Foster, R.G., Melin, L., Abadie, V., Baujat, G., Vazquez, M.P., Amiel, J., Lyonnet, S., Heyningen, V.V., Kleinjan, D.A. (2015) Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish. PLoS Genetics. 11:e1005193
Gordon, C.T., Weaver, K.N., Zechi-Ceide, R.M., Madsen, E.C., Tavares, A.L., Oufadem, M., Kurihara, Y., Adameyko, I., Picard, A., Breton, S., Pierrot, S., Biosse-Duplan, M., Voisin, N., Masson, C., Bole-Feysot, C., Nitschké, P., Delrue, M.A., Lacombe, D., Guion-Almeida, M.L., Moura, P.P., Garib, D.G., Munnich, A., Ernfors, P., Hufnagel, R.B., Hopkin, R.J., Kurihara, H., Saal, H.M., Weaver, D.D., Katsanis, N., Lyonnet, S., Golzio, C., Clouthier, D.E., Amiel, J. (2015) Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American journal of human genetics. 96:519-31
Gordon, C.T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T.Y., Munnich, A., Pennacchio, L.A., Abadie, V., Temple, I.K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D.A., Visel, A., Lyonnet, S. (2014) Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Human Mutation. 35(8):1011-20
Ghoumid, J., Drevillon, L., Alavi-Naini, S.M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., and Giurgea, I. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Human molecular genetics. 22(13):2652-61