Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

@article{Aligianis2006MutationIR,
  title={Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.},
  author={Irene A. Aligianis and Neil V Morgan and Maria Caterina Mione and Colin A. Johnson and Elisabeth M Rosser and Raoul C Hennekam and Gill Adams and Richard C Trembath and Daniela T. Pilz and Neil Stoodley and Anthony T Moore and Steve W. Wilson and Eamonn R Maher},
  journal={American journal of human genetics},
  year={2006},
  volume={78 4},
  pages={702-7}
}
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP (RAB3GAP1), a key regulator of calcium-mediated hormone and neurotransmitter exocytosis, were reported in Warburg micro syndrome, a severe neurodevelopmental condition with overlapping clinical features. RAB3GAP… CONTINUE READING