Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

• Main Authors: Daniela A. Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaelle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I. Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F. Hu, Anne Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik Siew Ch'Ng, Shuan Pei Lin, Jui Hsing Chang, Chao Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick E. Gipson, Chyong Hsin Hsu, Jameela A. Kari, Yu Yuan Ke, Cathy Kiraly-Borri, Wai Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R. Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman
• Other Authors: Children's Hospital Boston
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/41775
• Institution: Mahidol University

© 2017 Nature America, Inc., part of Springer Nature. All rights reserved. Galloway-Mowat syndrome (GAMOS) is an autosomalrecessive disease characterized by the combination of earlyonset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP,...