13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

  title={13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.},
  author={Brice Poreau and Stephanie G Lin and Caroline Bosson and Klaus Dieterich and V{\'e}ronique Satre and Françoise Devillard and Virginie Guigue and Candice Ronin and Sophie Brouillet and Christophe Barbier and Pierre-Simon Jouk and Charles Coutton},
  journal={European journal of medical genetics},
  volume={58 10},
We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. NDFIP2 protein is involved in ubiquitination and in Ras/mitogen-activated protein kinase (MAPK) signaling pathways. SPRY2 protein is part of Sprout protein family and inhibits the Ras/MAPK pathways. Ras/MAPK pathway plays important role in complex cellular programs including cell differentiation and proliferation. Germline mutations in genes encoding… 
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