Amish, Mennonite, and Hutterite
Genetic Disorder Database

Ataxia-telangiectasia - Variant

Disorder
OMIM #: *607585  (Click to access OMIM database)
Disorder: Ataxia-telangiectasia - Variant  
Also known as:  
Clinical
Phenotype: early onset primary dystonia, absence of cerebellar atrophy on MRI, lack of frank ataxia, and absence of ocular telangiectasias at original presentation, lack of presence of prominent myoclonus-dystonia  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: when homozygous it presents with very mild ataxia (not typical for AT) and late childhood onset dystonia and tremor 
Mutations
1   Old Colony Mennonite, Unknown / Other Mennonite  
Gene: ATM
Base Change: C>A, at nucleotide 6200
Amino Acid Change: ala 206 --> asp
Last updated: 2020-02-03 

References
Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA. (2014) A-T Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer,and life-threatening radiotoxicity. Mol Genet Genomic Med 2(4): 332–340.
PubMed ID: 25077176 
Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB. (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology Feb 28;78(9):649-57.
PubMed ID: 22345219 

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