HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis
- DOI:
- 10.1093/med/9780199934522.003.0090
Congenital thrombocytopenia is associated with radial abnormalities in several disorders, although the genetic basis of this linkage remains poorly understood. These disorders include thrombocytopenia with absent radii (TAR), Fanconi’s anemia (FA), and amegakaryocytic thrombocytopenia with radioulnar synostosis (ATRUS). FA is now recognized to be a defect of DNA repair and thrombocytopenia and radial defects in TAR are caused by biallelic deletion/mutation in the RNA-binding motif protein 8A (RBM8A) gene on chromosome 1q21.1. The etiology of ATRUS is still somewhat unclear however the description of two families in which a heterozygous mutation of Homeobox A11 (HOXA11) provides the first insights into the molecular mechanism of this condition.
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