Cell cycle and DNA repair; Undergrowth; Animal and human iPS cell models; Genetics and pathophysiology; Neuronal progenitor fate and brain development; Microcephaly, primary, monogenic; Next-generation sequencing
Boonsawat Paranchai, Joset Pascal, Steindl Katharina, Oneda Beatrice, Gogoll Laura, Azzarello-Burri Silvia, Sheth Frenny, Datar Chaitanya, Verma Ishwar C., Puri Ratna Dua, Zollino Marcella, Bachmann-Gagescu Ruxandra, Niedrist Dunja, Papik Michael, Figueiro-Silva Joana, Masood Rahim, Zweier Markus, Kraemer Dennis, Lincoln Sharyn, Rodan Lance, Passemard Sandrine, Drunat Séverine, Verloes Alain, Horn Anselm H. C., Sticht Heinrich, SteinfeldRobert, PleckoBarbara, LatalBeatrice, JenniOskar, AsadollahiReza, RauchAnita (2019), Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly, in Genetics in Medicine
Létard Pascaline, Drunat Séverine, Vial Yoann, Duerinckx Sarah, Ernault Anais, Amram Daniel, Arpin Stéphanie, Bertoli Marta, Busa Tiffany, Ceulemans Berten, Desir Julie, Doco-Fenzy Martine, Elalaoui Siham Chafai, Devriendt Koenraad, Faivre Laurence, Francannet Christine, Geneviève David, Gérard Marion, Gitiaux Cyril, Julia Sophie, Lebon Sébastien, Lubala Toni, Mathieu-Dramard Michèle, Maurey Hélène, Metreau Julia, Nasserereddine Sanaa, Nizon Mathilde, Pierquin Geneviève, Pouvreau Nathalie, Rivier-Ringenbach Clothilde, Rossi Massimiliano, Schaefer Elise, Sefiani Abdelaziz, Sigaudy Sabine, Sznajer Yves, Tunca Yusuf, Guilmin Crepon Sophie, Alberti Corinne, Elmaleh-Bergès Monique, Benzacken Brigitte, Wollnick Bernd, Woods C Geoffrey, Rauch Anita, Abramowicz Marc, El Ghouzzi Vincent, Gressens Pierre, Verloes Alain, Passemard Sandrine (2018), Autosomal recessive primary microcephaly due to ASPM mutations: An update., in Human mutation
, 39(3), 319-332.
Yigit Gökhan, Brown Karen E, Kayserili Hülya, Pohl Esther, Caliebe Almuth, Zahnleiter Diana, Rosser Elisabeth, Bögershausen Nina, Uyguner Zehra Oya, Altunoglu Umut, Nürnberg Gudrun, Nürnberg Peter, Rauch Anita, Li Yun, Thiel Christian Thomas, Wollnik Bernd (2015), Mutations in CDK5RAP2 cause Seckel syndrome., in Molecular genetics & genomic medicine
, 3(5), 467-80.
Rosin Nadine, Elcioglu Nursel H, Beleggia Filippo, Isgüven Pinar, Altmüller Janine, Thiele Holger, Steindl Katharina, Joset Pascal, Rauch Anita, Nürnberg Peter, Wollnik Bernd, Yigit Gökhan (2015), Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability., in Human molecular genetics
, 24(13), 3708-17.
Primary Microcephalies (PMs) are a rare (< 1/10,000), genetically and clinically heterogeneous group of autosomal recessive (AR) disorders that result from insufficient production of mature neurons during neurogenesis. Known causal genes are involved in cell-cycle control (Verification of DNA integrity, DNA replication, centrosome duplication and spindle pole organization). Alterations to these processes may lead to isolated PM (MCPH) or PM with dwarfism (Seckel syndrome - SCKS, microcephalic osteodysplastic primordial dwarfism type 2 - MOPD2 and Meier-Gorlin syndrome - MGS). Causal genes are currently known in about 30-50% of patients. In this project, named EuroMicro, 5 European teams with extensive experience with PM will join forces to gain insights into the natural history of the disease and its underlying mechanisms, which involve very basic processes in brain development. The ultimate aim of EuroMicro is to improve patient care and become a clinical and scientific resource centre for patients with PM in Europe.The EuroMicro project is divided into 5 work packages corresponding to the following 5 aims: 1) to collect clinical data, genetic data and biological samples from patients with PM and to bank all these data in a common web-based database;2) to explore the molecular mechanisms underlying PM by identifying and validating new PM genes;3) to explore the pathophysiology of PM by studying the cellular and neuropathological phenotypes caused by mutations in PM genes;4) to elucidate defects in neurogenesis caused by PM genes using human induced pluripotent stem cells (hiPSCs) derived from PM patients;5) to characterize patients at the clinical level, (including natural history, comorbidities, brain imaging and the impact of PM gene mutations on human cognitive functioning and social behaviour), in order to detect specific cognitive disabilities and propose suitable remediation strategies.