Amish, Mennonite, and Hutterite
Genetic Disorder Database

Ataxia Telangiectasia

Disorder
OMIM #: #208900  (Click to access OMIM database)
Disorder: Ataxia Telangiectasia 
Also known as: AT1, LOUIS-BAR SYNDROME 
Clinical
Phenotype: Progressive cerebellar ataxia, ocular telangiectasia, cutaneous telangiectasia, cell-mediated immunodeficiency, immunoglobin deficiency, chromosome instability, increased cancer risk(especially breast cancer) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: ATM
Base Change: Deletion AG, at nucleotide 1563
Amino Acid Change: Frame shift
2   Unknown / Other Mennonite  
Gene: ATM
Base Change: G>T, at nucleotide 5932
Amino Acid Change: Glu1978X
Last updated: 2008-08-27 

References
Campbell C, Mitui M, Eng L, Coutinho G, Thorstenson Y, Gatti RA. (2003) ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat 21(1):80-5.
PubMed ID: 12497634 
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. (1998) Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am. J. Hum. Genet. 62:86-97.
PubMed ID: 9443866 
Ying KL, Decoteau WE. (1981) Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4(4):311-7.
PubMed ID: 6174206 

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