Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

نویسندگان

  • Ricardo H. Roda
  • Brett A. McCray
  • Christopher J. Klein
  • Ahmet Hoke
چکیده

Mutations inDRP2 (OMIM #300052) encoding dystrophin-related protein 2, a 957 amino acid protein, were identified in a single patient with X-linked Charcot-Marie-Tooth (CMT) disease and are associated with familial autism. DRP2 is predominantly expressed in the brain and spinal cord and functionally interacts with periaxin (PRX, OMIM #605725), a known causative CMT gene (OMIM #614895 and #145900), in the PRX-DRP2-dystroglycan (PDG) complex. The PDG complex supports and maintains Cajal bands, which are cytoplasmic extensions that run along the length of myelinated axons and are required for establishing a proper internodal length.

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عنوان ژورنال:

دوره 4  شماره 

صفحات  -

تاریخ انتشار 2018