HARS Deficiency

Disorder
OMIM #:	#614504 (Click to access OMIM database)
Disorder:	HARS Deficiency
Also known as:	Usher Syndrome, Type IIIB
Clinical
Phenotype:	retinitis pigmentosa, visual impairment, nystagmus, photophobia, optic artrophy, progressive sensorineural hearing loss, episodic psychosis, ataxia, motor delay
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Testing is available at LHSC. Autosomal recessive
Mutations
1 Amish
Gene:	HARS
Base Change:	A>C, at nucleotide 1361
Amino Acid Change:	trp 454 --> ser
Last updated:	2022-11-05

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

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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