RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

摘要

Intellectual disability (ID) is a variable and heterogeneous manifestation of central nervous system dysfunction, affecting 2–3% of the Western population [Raymond, 2010]. Although several genes have been shown to be mutated in patients with ID, only a small number of mutated autosomal genes have been identified thus far. Balanced de novo chromosomal translocations in patients with ID are a valuable resource in the search for genes causally related to disease. Recently, the RUNX1T1 gene at 8q21.3 was found to be disrupted in a patient with ID with a balanced translocation t(5;8)(q31;q21) [Zhang et al., 2009]. Analysis of RUNX1T1 expression in human embryonic and fetal tissues has suggested a role in brain development and cognitive impairment [Zhang et al., 2009]. Here, we report on a patient with apparent ID of a mild degree and a de novo deletion within the RUNX1T1 gene establishing defects in this transcription regulator as a likely cause of autosomal dominant mild to moderate ID.