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[<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib1\">1994<\/jats:ext-link>] described a 5\u2010generation family in which severe retinitis pigmentosa (RP) co\u2010segregates with mild\u2013moderate mental retardation as an X\u2010linked recessive phenotype mapping to the broad interval between Xp21\u2010q21. We re\u2010examined this family, initially analyzing <jats:italic>RP2<\/jats:italic>, 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\u2032 three exons of <jats:italic>RP2<\/jats:italic> and that <jats:italic>RP2<\/jats:italic> marks the centromeric boundary of a 1.27 Mb deletion that includes two other annotated genes (<jats:italic>SLC9A7, CHST7<\/jats:italic>), 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 <jats:italic>RP2<\/jats:italic> 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. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31080","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T02:47:37Z","timestamp":1137552457000},"page":"349-357","source":"Crossref","is-referenced-by-count":21,"title":["A microdeletion in Xp11.3 accounts for co\u2010segregation of retinitis pigmentosa and mental retardation in a large 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