| Ataxia and pancytopenia caused by a mutation in TINF2. | |
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MedLine Citation:
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PMID: 18979121 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Elena Tsangaris; Sally-Lin Adams; Grace Yoon; David Chitayat; Peter Lansdorp; Inderjeet Dokal; Yigal Dror |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-11-01 |
Journal Detail:
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Title: Human genetics Volume: 124 ISSN: 1432-1203 ISO Abbreviation: Hum. Genet. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2008-11-26 Completed Date: 2009-01-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: Germany |
Other Details:
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Languages: eng Pagination: 507-13 Citation Subset: IM |
Affiliation:
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Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Substitution Base Sequence Cerebellar Ataxia / genetics* DNA / genetics Dyskeratosis Congenita / genetics Female Genes, Dominant Humans Infant Male Pancytopenia / genetics* Point Mutation* Syndrome Telomere / genetics Telomere-Binding Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/TINF2 protein, human; 0/Telomere-Binding Proteins; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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