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

@article{Sousa2014GainoffunctionMI,
  title={Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome},
  author={Sergio B. de Sousa and Dagan Jenkins and Estelle Chanudet and Guergana Tasseva and M Ishida and Glenn Anderson and James Docker and Mina Ryten and J. M. A. C{\'e}sar de S{\'a} and Jorge Manuel Tavares Lopes de Andrade Saraiva and Angela Barnicoat and Richard Scott and Alistair Calder and Duangrurdee Wattanasirichaigoon and Krystyna H. Chrzanowska and Martina Simandlov{\'a} and Lionel van Maldergem and Philip Stanier and Philip L. Beales and Jean E. Vance and Gudrun E Moore},
  journal={Nature Genetics},
  year={2014},
  volume={46},
  pages={70-76}
}
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 heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine… CONTINUE READING