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Your search keyword '"Margaux Serey-Gaut"' showing total 4 results
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4 results on '"Margaux Serey-Gaut"'

1. Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

Author

Laurence Jonard, Davide Brotto, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Hannie Kremer, Ronald Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, and Sandrine Marlin

Subjects
n/a, Otorhinolaryngology, RF1-547
Abstract

The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...]

Published
2023
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2. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Author

Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M.R. Taylor, Jennifer A. Sullivan, Ayat N. Asleh, Jaba Mitra, Mohamad A. Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A. Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehlivan, Zeynep Coban Akdemir, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Harpreet K. Dibra, Philip J. Byrd, Grant S. Stewart, Bilgen B. Geckinli, Jennifer Posey, Rachel Westman, Chelsy Jungbluth, Jacqueline Eason, Rani Sachdev, Carey-Anne Evans, Gabrielle Lemire, Grace E. VanNoy, Anne O’Donnell-Luria, Frédéric Tran Mau-Them, Aurélien Juven, Juliette Piard, Cheng Yee Nixon, Ying Zhu, Taekjip Ha, Michael F. Buckley, Christel Thauvin, George K. Essien Umanah, Lionel Van Maldergem, James R. Lupski, Tony Roscioli, Valina L. Dawson, Ted M. Dawson, and Stylianos E. Antonarakis

Subjects
Genetics, Genetics (clinical)
Published
2023
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4. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

Author

Christelle Cabrol, Alessandro Consales, Vincenzo Nigro, Lyse Ruaud, Marcello Scala, Gianluca Piatelli, Francesco Musacchia, Valeria Capra, Margaux Serey-Gaut, Nathalie Escande-Beillard, Lionel Van Maldergem, Jean Langlais, Bruno Reversade, Annalaura Torella, Andrea Accogli, Serey-Gaut, M., Scala, M., Reversade, B., Ruaud, L., Cabrol, C., Musacchia, F., Torella, A., Accogli, A., Escande-Beillard, N., Langlais, J., Piatelli, G., Consales, A., Nigro, V., Capra, V., and Van Maldergem, L.

Subjects
0301 basic medicine, cervical spine malformation, supernumerary ribs, 030105 genetics & heredity, 03 medical and health sciences, Exon, Skeletal disorder, spondylocostal dysostosis type 6, Vertebral segmentation defect, Genetics, medicine, Spectrum disorder, Genetics (clinical), Exome sequencing, oculo-auriculo-vertebral spectrum, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, RIPPLY2, Anatomy, medicine.disease, Spinal cord, Spondylocostal dysostosis, 030104 developmental biology, medicine.anatomical_structure, business
Abstract

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X-ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family-based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico-thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240-4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo-axoidal malformation compromising spinal cord integrity. This distinctive mutation-specific pattern of malformation differs from Klippel–Feil syndrome and broadens the current classification, defining a sub-type of RIPPLY2-related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo-auriculo-vertebral spectrum disorder.

Published
2020
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