Abstract
The syndrome of ataxia–pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia. The genetic basis of this condition is unknown. We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. We propose that some cases of ataxia–pancytopenia may be affected by DC.
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Acknowledgments
The authors acknowledge all the co-investigators of the Canadian Inherited Marrow Failure Registry: Drs. Robert Klaassen, Conrad Fernandez, Rochelle Yanofsky, Evan Shreck, Jossette Champagne, Mariana Silva, Jeffrey Lipton, Jossee Brossard, Yvon Samson, Sharon Abish, MacGregor Steele, Kaiser Ali, Nancy Dower, Uma Athale, Lawrence Jardine, John Hand, Joseph Beyene. The Canadian Inherited Marrow Failure Registry was supported by grants from the C17 Research Network and Candlelighters Canada, Fanconi Anemia Canada, The Neutropenia Association of Canada and Shwachman-Diamond Syndrome Canada.
Conflict of interest statement
P.M.L. is a founding shareholder in Repeat Diagnostics Inc., a company specializing in leukocyte telomere length measurements using flow FISH. All other authors declare no competing financial interests.
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Tsangaris, E., Adams, SL., Yoon, G. et al. Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet 124, 507–513 (2008). https://doi.org/10.1007/s00439-008-0576-7
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DOI: https://doi.org/10.1007/s00439-008-0576-7