Zinc Finger Protein 81 (ZNF81)

ZNF81encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked type 45 (MRX45).

Kleefstra et al. (2004) characterized the breakpoints of a de novo translocation, t(X;9)(p11.23;q34.3), in a female patient with severe mental retardation and found that the translocation disrupted the ZNF81 gene. Mutation analysis in more than 300 families and patients with nonspecific X-linked mental retardation revealed a ser179-to-asn substitution in ZNF81 in family MRX45, reported by Hamel et al. (1999), that fully segregated with the phenotype. Kleefstra et al. (2004) suggested that mutation in the ZNF81 gene may be a rare cause of nonspecific X-linked mental retardation.