Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

@article{Morin2014GainofFunctionMI,
  title={Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.},
  author={Gilles Morin and Nadina Ortiz Bruechle and Amrathlal Rabbind Singh and Cordula A Knopp and Guillaume Jedraszak and Miriam Elbracht and Dominique Br{\'e}mond-Gignac and Kathi Hartmann and Henri Sevestre and Peter Deutz and Didier H{\'e}rent and Peter N{\"u}rnberg and Bernard Rom{\'e}o and Kerstin Konrad and Mich{\`e}le Mathieu-Dramard and Johannes Oldenburg and Elisabeth Bourges-Petit and Yuequan Shen and Klaus Zerres and Halima Ouadid-Ahidouch and Jacques Rochette},
  journal={Human mutation},
  year={2014},
  volume={35 10},
  pages={1221-32}
}
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole-exome sequencing, we identified the c.910C > T transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein… CONTINUE READING

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