Ataxia-pancytopenia syndrome
| Ataxia-pancytopenia syndrome | |
|---|---|
| Specialty | Neurology |
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
This syndrome was first described in 1981.[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
- ↑ Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU (1981) Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Cancer Genet Cytogenet 4(3):189-196
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