
Study of copy number variants in autism spectrum disorders and their comorbidities
Study of copy number variants in autism spectrum disorders and their comorbidities
Autism Spectrum Disorders (ASDs) are a group of multifactorial, heterogeneous neurodevelopmental disorders characterized by deficits in communication and social interaction, and repetitive behaviors. The prevalence is ~1% worldwide with a 4:1 male to female ratio. Several co-morbidities have been associated with Autism Spectrum Disorders including intellectual disability, craniofacial malformations, head circumference defects (micro/macrocephaly), gastrointestinal problems, and heart malformations.
CNVs (e.g. deletion, duplication, insertion, inversion) represent the most frequent types of genetic lesion in both rare and common human genetic disorders. To date, a total of 17 recurrent CNVs have been associated with ASD. The interpretation of these lesions is both acute and challenging. The primary focus in our laboratory is to understand how genetic variation can impact the development and homeostasis of the nervous system. To this goal, we have developed animal models and assays to study the impact of gene dosage defects on basic neurodevelopmental processes to:
- Discover genes and alleles that contribute to diseases
- Capture and validate genetic interactions (cis- and trans-modulators)
- Identify genes implicated in ASD-associated comorbidities
The laboratory employs an innovative orthogonal approach to tackle the current challenges in the field by combining in vivo modeling in the developing zebrafish, mouse and genomic tools. Ultimately, our work will contribute to the stratification of this highly heterogeneous group of disorders and will, in turn, inform diagnosis and patient care.
Members
Researchers
PhD students
Former members
Camille Bonnet, PhD candidate (now doing an MBA, Management & Biotechnology)
Nicla Loviglio, Postdoctoral fellow (now Scientific Support Specialist at Polyplus-Transfection)
Gaëlle Hayot, PhD candidate (now Postdoctoral fellow at Karlsruhe Institute of Technology (KIT), Germany)
Raphael Schatz, Project Engineer (now doing an MBA, Management)
Collaborations and networks
Networks : STRAS&ND, NEUREX, Celphedia
Funding and partners
ANR JCJC
USIAS
LabEX Chair of Excellence
News

Charles J. Epstein Award: Marianne Lemée is Laureate for Excellence in Human Genetics Research
Marianne Lemée, a doctoral student in the team of Christelle Golzio, Inserm research fellow, is one of the three winners of the Charles J. Epstein…
Read more
Awards and recognitions
2013 NARSAD Young Investigator Award
2019 Guy Ourisson Prize
Publications
-
2025
-
SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems
- Francesca Di Leva
- Michele Arnoldi
- Stefania Santarelli
- Mathieu Massonot
- Marianne Victoria Lemée
- Carlotta Bon
- Miguel Pellegrini
- Maria Elena Castellini
- Giulia Zarantonello
- Andrea Messina
- Yuri Bozzi
- Raphael Bernier
- Silvia Zucchelli
- Simona Casarosa
- Erik Dassi
- Giuseppe Ronzitti
- Christelle Golzio
- Jasmin Morandell
- Stefano Gustincich
- Stefano Espinoza
- ...
Molecular Therapy ; Volume: 33 ; Page: 1180 - 1196
-
-
2024
-
The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains
- Marina Vitoria Gomes
- Pauline Landwerlin
- Marie-Laure Diebold-Durand
- Tajith B Shaik
- Alexandre Durand
- Edouard Troesch
- Chantal Weber
- Karl Brillet
- Marianne V Lemée
- Christophe Decroos
- Ludivine Dulac
- Pierre Antony
- Erwan Watrin
- Eric Ennifar
- Christelle Golzio
- Christophe Romier
Cell Reports ; Volume: 43 ; Page: 114656
-
A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis
- Majid Pahlevan Kakhki
- Antonino Giordano
- Chiara Starvaggi Cucuzza
- Tejaswi Venkata S. Badam
- Samudyata Samudyata
- Marianne Victoria Lemée
- Pernilla Stridh
- Asimenia Gkogka
- Klementy Shchetynsky
- Adil Harroud
- Alexandra Gyllenberg
- Yun Liu
- Sanjaykumar Boddul
- Tojo James
- Melissa Sorosina
- Massimo Filippi
- Federica Esposito
- Fredrik Wermeling
- Mika Gustafsson
- Patrizia Casaccia
- ...
Nature Communications ; Volume: 15 ; Page: 6419
-
Improving laboratory animal genetic reporting: LAG-R guidelines
- Lydia Teboul
- James Amos-Landgraf
- Fernando J Benavides
- Marie-Christine Birling
- Steve D M Brown
- Elizabeth Bryda
- Rosie Bunton-Stasyshyn
- Hsian-Jean Chin
- Martina Crispo
- Fabien Delerue
- Michael Dobbie
- Craig L Franklin
- Ernst-Martin Fuchtbauer
- Xiang Gao
- Christelle Golzio
- Rebecca Haffner
- Yann Hérault
- Martin Hrabe de Angelis
- Kevin C Kent Lloyd
- Terry R Magnuson
- ...
Nature Communications ; Volume: 15
-
-
2022
-
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance
- Gaëlle Hayot
- Mathieu Massonot
- Céline Keime
- Elodie Faure
- Christelle Golzio
Life Science Alliance ; Volume: 6
-
-
2020
-
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
- Laure Asselin
- José Rivera Alvarez
- Solveig Heide
- Camille Bonnet
- Peggy Tilly
- Hélène Vitet
- Chantal Weber
- Carlos Bacino
- Kristin Baranaño
- Anna Chassevent
- Amy Dameron
- Laurence Faivre
- Neil Hanchard
- Sonal Mahida
- Kirsty Mcwalter
- Cyril Mignot
- Caroline Nava
- Agnès Rastetter
- Haley Streff
- Christel Thauvin-Robinet
- ...
Nature Communications ; Volume: 11
-
A dominant vimentin variant causes a rare syndrome with premature aging
- Benjamin Cogné
- Jamal-Eddine Bouameur
- Gaëlle Hayot
- Xenia Latypova
- Sundararaghavan Pattabiraman
- Amandine Caillaud
- Karim Si-Tayeb
- Thomas Besnard
- Sébastien Küry
- Caroline Chariau
- Anne Gaignerie
- Laurent David
- Philippe Bordure
- Daniel Kaganovich
- Stéphane Bézieau
- Christelle Golzio
- Thomas Magin
- Bertrand Isidor
European Journal of Human Genetics ; Volume: 28 ; Page: 1218-1230
-
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
- Francesca Mattioli
- Gaelle Hayot
- Nathalie Drouot
- Bertrand Isidor
- Jérémie Courraud
- Maria-Victoria Hinckelmann
- Frederic Tran Mau-Them
- Chantal Sellier
- Alica Goldman
- Aida Telegrafi
- Alicia Boughton
- Candace Gamble
- Sebastien Moutton
- Angélique Quartier
- Nolwenn Jean
- Paul van Ness
- Sarah Grotto
- Sophie Nambot
- Ganka Douglas
- Yue Cindy Si
- ...
American Journal of Human Genetics ; Volume: 106 ; Page: 438-452
-
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
- Julián Nevado
- Karen S. Ho
- Marcella Zollino
- Raquel Blanco
- César Cobaleda
- Christelle Golzio
- Isabelle Beaudry‐bellefeuille
- Sarah Berrocoso
- Jacobo Limeres
- Pilar Barrúz
- Candela Serrano‐martín
- Concetta Cafiero
- Ignacio Málaga
- Giuseppe Marangi
- Elena Campos‐sánchez
- Tania Moriyón‐iglesias
- Sorangui Márquez
- Leah Markham
- Hope Twede
- Amanda Lortz
- ...
American Journal of Medical Genetics Part A ; Volume: 182 ; Page: 257-267
-
Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits
- Elyza Kelly
- Fantao Meng
- Hirofumi Fujita
- Felipe Morgado
- Yasaman Kazemi
- Laura Rice
- Chongryu Ren
- Christine Ochoa Escamilla
- Jennifer Gibson
- Sanaz Sajadi
- Robert Pendry
- Tommy Tan
- Jacob Ellegood
- M. Albert Basson
- Randy Blakely
- Scott Dindot
- Christelle Golzio
- Maureen Hahn
- Nicholas Katsanis
- Diane Robins
- ...
Nature Neuroscience ; Volume: 23 ; Page: 1102-1110
-