Ataxia-pancytopenia syndrome

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Ataxia-pancytopenia syndrome
SpecialtyNeurology

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.

Genetics[edit]

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[edit]

History[edit]

This syndrome was first described in 1981.[2]

References[edit]

  1. ^ 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
  2. ^ 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