The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/ SLC5A7) causes a lethal form of fetal akinesia syndrome

• Author(s) / Creator(s)

  • Banerjee, M
  • Arutyunov, D
  • Brandwein, D
  • Janetzki-Flatt, C
  • Kolski, H
  • Hume, S
  • Leonard, NJ
  • Watt, J
  • Lacson, A
  • Baradi, M
  • Leslie, EM
  • Cordat, E
  • Caluseriu, O

• A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes
  (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity
  and function of the neuromuscular junction (NMJ). A central component of the NMJ is the sodiumdependent
  high-affinity choline transporter 1 (CHT1), a solute carrier protein (gene symbol
  SLC5A7), responsible for the reuptake of choline into the nerve termini has recently been
  implicated as one of several autosomal recessive causes of CMS. We report the identification
  and functional characterization of a novel pathogenic variant in SLC5A7, c.788C>T
  (p.Ser263Phe) in an El Salvadorian family with a lethal form of congenital myasthenic syndrome
  characterized by fetal akinesia. This study expands the clinical phenotype and insight into a form
  of fetal akinesia related to choline transporter defects and proposes a genotype-phenotype
  correlation for the lethal form of SLC5A7-related disorder with potential implications for genetic
  counseling.

• Date created

  2019-05-15

• Subjects / Keywords

  • congenital myasthenia syndrome, autosomal recessive, high-affinity choline transporter 1, SLC5A7, fetal akinesia syndrome

• Type of Item

  Article (Draft / Submitted)

• DOI

  https://doi.org/10.7939/r3-ec9v-x472

• License

  Attribution-NonCommercial 4.0 International