Amish, Mennonite, and Hutterite
Genetic Disorder Database

HARS Deficiency

Disorder
OMIM #: #614504  (Click to access OMIM database)
Disorder: HARS Deficiency 
Also known as: Usher Syndrome, Type IIIB 
Clinical
Phenotype: Retinitis pigmentosa, Progressive sensorineural hearing loss, Episodic psychosis, Ataxia  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: HARS
Base Change: A>C, at nucleotide 1361
Amino Acid Change: trp 454 --> ser
Last updated: 2018-04-19 

References
Abbott JA, Guth E, Kim C, Regan C, Siu VM, Rupar CA, Demeler B, Francklyn CS, Robey-Bond SM. (2017) The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. Biochemistry Jul 18;56(28):3619-3631.
PubMed ID: 28632987 
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 

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