Amish, Mennonite, and Hutterite
Genetic Disorder Database

Parkinsonism-dystonia, infantile (PKDYS)

Disorder
OMIM #: #613135  (Click to access OMIM database)
Disorder: Parkinsonism-dystonia, infantile (PKDYS) 
Also known as: Dopamine transporter deficiency syndrome (DTDS)
Infantile Parkinsonism-dystonia syndrome 
Clinical
Phenotype: dystonia, chorea, Dopamine non-responsive Parkinsonism, progressive frontal lobe degeneration  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SLC6A3
Base Change: c.1269+1G>T
Amino Acid Change: splicing defect
Last updated: 2015-04-23 

References
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524 

Back