Mental retardation (MR) involves a complex collection of clinically and genetically diverse disorders. Diagnosis of MR is typically based on three main criteria: onset of symptoms before the age of 18, intellectual abilities significantly lower than average, and reduced adaptive skills. Individuals with MR tend to struggle in areas including communication, health, interpersonal/social skills, leisure, safety, self-guidance and care, school performance, and work.

X-linked mental retardation (XLMR) is associated with more than 200 conditions linked to >90 genes on the X chromosome. XLMR affects approximately 1/600-1/1000 males, as well as a significant number of females.   Mutations in these genes have been shown to be an underlying cause of mental retardation, which may or may not be associated with other congenital anomalies, developmental delay, autism, dysmorphism, and numerous genetic syndromes.  One of the XLMR associated genes is ZNF711.

Mutations in the zinc finger protein 711 gene (ZNF711) have been shown to result in nonspecific mental retardation (MRXZ).  Located at Xq21.1-q21.3, the ZNF711 gene is comprised of 7 coding exons in which both point transitions and small deletions have been observed.  Mutations in ZNF711 demonstrate X-linked dominant inheritance with variable penetrance in females.  Patients with ZNF711 mutations present with moderate mental retardation and lack of additional consistent distinctive features.