Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia.
| Ataxia-pancytopenia syndrome | |
|---|---|
| Specialty | Neurology |
| Causes | genetic |
Signs and symptoms
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Genetics
editThis syndrome is caused by mutations in the sterile alpha motif domain containing 9-like (SAMD9L) gene.[1] This gene is located on the long arm of chromosome 7.
Diagnosis
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History
editAtaxia-pancytopenia syndrome, also known as myelocerebellar dysfunction, was first described by Frederick Pei Li in 1978. The father and all five of his children developed ataxia and hematologic cytopenias of varying severity during their first to third decades of life.[2]
References
edit- ^ Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009
- ^ Chen, Dong-Hui; Below, Jennifer E.; Shimamura, Akiko; Keel, Sioban B.; Matsushita, Mark; Wolff, John; Sul, Youngmee; Bonkowski, Emily; Castella, Maria; Taniguchi, Toshiyasu; Nickerson, Deborah; Papayannopoulou, Thalia; Bird, Thomas D.; Raskind, Wendy H. (2 June 2016). "Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L". The American Journal of Human Genetics. 98 (6): 1146–1158. doi:10.1016/j.ajhg.2016.04.009. PMC 4908176. PMID 27259050.
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