A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred

Am J Med Genet A. 2006 Feb 15;140(4):349-57. doi: 10.1002/ajmg.a.31080.


In a previous report, Aldred et al. [1994] described a 5-generation family in which severe retinitis pigmentosa (RP) co-segregates with mild-moderate mental retardation as an X-linked recessive phenotype mapping to the broad interval between Xp21-q21. We re-examined this family, initially analyzing RP2, a gene in the disease interval that was identified as a cause of RP after the initial report of this family. We found that the male propositus lacked the 5' three exons of RP2 and that RP2 marks the centromeric boundary of a 1.27 Mb deletion that includes two other annotated genes (SLC9A7, CHST7), one predicted transcript encoding a zinc finger protein (FLJ20344) and two highly conserved miRNAs (mir221, mir222). We conclude that this family is segregating a contiguous gene deletion and that the absence of a functional RP2 accounts, at least in part, for the retinal degeneration while deletion of one or more of the other genes is likely responsible for the mental retardation phenotype.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antiporters / genetics
  • Base Sequence
  • Chromosome Mapping
  • Chromosome Segregation
  • Chromosomes, Human, X / genetics*
  • Eye Proteins / genetics
  • Female
  • GTP-Binding Proteins
  • Gene Deletion*
  • Genetic Linkage*
  • Humans
  • Intellectual Disability / genetics*
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins
  • Membrane Transport Proteins / genetics
  • MicroRNAs
  • Molecular Sequence Data
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Sodium-Hydrogen Exchangers
  • Sulfotransferases / genetics


  • Antiporters
  • Eye Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • MicroRNAs
  • RP2 protein, human
  • SLC9A7 protein, human
  • Sodium-Hydrogen Exchangers
  • CHST9 protein, human
  • Sulfotransferases
  • GTP-Binding Proteins