Ataxia Telangiectasia
| Disorder | |
|---|---|
| OMIM #: | #208900 (Click to access OMIM database) |
| Disorder: | Ataxia Telangiectasia |
| Also known as: | AT1, LOUIS-BAR SYNDROME |
| Clinical | |
| Phenotype: | short stature, ataxia, dystonia, choreoathetosis, tremors, seizures, neurologic dysfunction, ocular telangiectasia, strabismus, cutaneous telangiectasia, other skin abnormalities, cell-mediated immunodeficiency, immunoglobulin deficiency, thymus hypoplasia chromosome instability, increased cancer risk(especially breast cancer), hypogonadism, diabetes mellitus |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ATM |
| Base Change: | c.1564_1565delAG |
| Amino Acid Change: | p.Glu522Ilefs*43 |
| 2 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | ATM |
| Base Change: | G>T, at nucleotide 5932 |
| Amino Acid Change: | p.Glu1978* |
| Last updated: | 2022-11-15 |
| 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 |
| Ganguly J, Bernaola MT, Goobie S, Prasad A, Jog M. (2021) Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite. Mov Disord Clin Pract Dec 1;9(2):264-267. PubMed ID: 35146067 |
| 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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