Intellectual Disability Associated With Retinal Dystrophy in the Xp11.3 Deletion Syndrome: ZNF674 on Trial. Guilty or Innocent?

Eur J Hum Genet. 2012 Mar;20(3):352-6. doi: 10.1038/ejhg.2011.217. Epub 2011 Nov 30.


X-linked retinal dystrophies (XLRD) are listed among the most severe RD owing to their early onset, leading to significant visual loss before the age of 30. One-third of XLRD are accounted for by RP2 mutations at the Xp11.23 locus. Deletions of ca. 1.2 Mb in the Xp11.3-p11.23 region have been previously reported in two independent families segregating XLRD with intellectual disability (ID). Although the RD was ascribed to the deletion of RP2, the ID was suggested to be accounted for by the loss of ZNF674, which mutations were independently reported to account for isolated XLID. Here, we report deletions in the Xp11.3-p11.23 region responsible for the loss of ZNF674 in two unrelated families segregating XLRD, but no ID, identified by chromosomal microarray analysis. These findings question the responsibility of ZNF674 deletions in ID associated with X-linked retinal dystrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, X*
  • Comparative Genomic Hybridization
  • Eye Proteins / genetics
  • Gene Deletion
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Intracellular Signaling Peptides and Proteins / genetics
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Pedigree
  • Retinal Dystrophies / complications
  • Retinal Dystrophies / genetics*
  • Syndrome
  • Young Adult


  • Eye Proteins
  • Intracellular Signaling Peptides and Proteins
  • Kruppel-Like Transcription Factors
  • Membrane Proteins
  • RP2 protein, human
  • ZNF674 protein, human