Ataxia and pancytopenia caused by a mutation in TINF2.
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.
Tsangaris
Elena
E
Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada.
Adams
Sally-Lin
SL
Yoon
Grace
G
Chitayat
David
D
Lansdorp
Peter
P
Dokal
Inderjeet
I
Dror
Yigal
Y
D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002524:Cerebellar Ataxia / Q000235:genetics*; D004247:DNA / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D016615:Telomere / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics*
C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins; D004247:DNA