Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome Academic Article uri icon


MeSH Major

  • Neuroleptic Malignant Syndrome
  • Receptors, Dopamine D2


  • Dysfunction of the dopaminergic system has been suggested as a pathogenic mechanism in neuroleptic malignant syndrome. Therefore, we examined the complete coding sequences of the dopamine D2 receptor (DRD2) gene for structural abnormalities in 12 patients with a history of NMS, including two cases of familial NMS. Mutational analysis was performed by denaturing gradient gel electrophoresis (DGGE), a highly sensitive technique for detecting sequences differences. We found in one patient with a history of NMS a nucleotide substitution at codon 310 (CCG-->TCG) of exon 7 of the DRD2 gene which predicts the replacement of proline to serine in the third cytoplasmic loop of the receptor, a part of the receptor that interacts with G-proteins. A larger series of patients with NMS needs to be investigated to establish whether this allele is associated with an increased susceptibility to NMS.

publication date

  • July 4, 1995



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320600311

PubMed ID

  • 7573176

Additional Document Info

start page

  • 228

end page

  • 30


  • 60


  • 3