In ZNF711, an additional truncating variant was found in one subject (Fig. 1b and Table 4) and showed strong evidence of segregation with mental retardation (lod score 2.1). No ZNF711 variants were found in controls. Together with the results from the primary screen, two truncating variants were found in 1,122 XLMR-affected individuals, both of which segregate with the disease (combined lod score 3.4), and no truncating variants were found in 41,200 controls. These results indicate that ZNF711 is also an XLMR-associated gene. The two families with truncating ZNF711 mutations had moderate mental retardation without consistent additional distinctive features. ZNF711 encodes a zinc-finger protein of unknown function.
