KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case report

@article{Lucena2020KPTNGH,
  title={KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case report},
  author={Pedro H Lucena and Giulia Armani-Franceschi and Ana Cec{\'i}lia Bispo-Torres and Igor D{\'o}rea Bandeira and Mariana F G Lucena and Igor Maldonado and Marielza Fern{\'a}ndez Veiga and Diego Miguel and Rita Lucena},
  journal={American Journal of Medical Genetics Part A},
  year={2020},
  volume={182},
  pages={762 - 767}
}
Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9‐year‐old boy from Kansas City. We report a case of KPTN‐related syndrome in a 5‐year‐old… Expand
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