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

Lilei Zhang, Tao Wang, Alan F. Wright, Mohnish Suri, Charles E. Schwartz, Roger E. Stevenson, David Valle

Research output: Contribution to journalArticle


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 (SLC9A 7, 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.

Original languageEnglish (US)
Pages (from-to)349-357
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number4
StatePublished - Feb 15 2006



  • MicroRNA
  • Retinitis pigmentosa
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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