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.
Signs and symptoms
Genetics
This 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
History
Ataxia-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
- ^ 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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This page was last edited on 27 October 2023, at 18:26