Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

@article{Onat2013MissenseMI,
  title={Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion},
  author={Onur Emre Onat and Suleyman Gulsuner and Kaya Bilguvar and Ayse Nazli Başak and Haluk Topaloğlu and Meliha Tan and Uner Tan and Murat Gunel and Tayfun Ozçelik},
  journal={European Journal of Human Genetics},
  year={2013},
  volume={21},
  pages={281-285}
}
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M… CONTINUE READING