Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

• Main Authors: Sérgio B. Sousa, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida, Glenn Anderson, James Docker, Mina Ryten, Joaquim Sa, Jorge M. Saraiva, Angela Barnicoat, Richard Scott, Alistair Calder, Duangrurdee Wattanasirichaigoon, Krystyna Chrzanowska, Martina Simandlová, Lionel Van Maldergem, Philip Stanier, Philip L. Beales, Jean E. Vance, Gudrun E. Moore
• Other Authors: UCL Institute of Child Health
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/33503
• Institution: Mahidol University

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative...