Document Detail

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