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Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, dental abnormalities, dysmorphic features, and mental retardation in some cases. Previous studies have mapped the disease gene to a 2 cM interval on Xp22.2 between DXS43 and DXS999. We report additional linkage data resulting from the analysis of eleven independent NHS families. A maximum lod score of 9.94 (theta=0.00) was obtained at the RS1 locus and a recombination with locus DXS1195 on the telomeric side was observed in two families, thus refining the location of the gene to an interval of around 1 Mb on Xp22.13. Direct sequencing or SSCP analysis of the coding exons of five genes (SCML1, SCML2, STK9, RS1 and PPEF1), considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS.

Original publication




Journal article


Eur J Hum Genet

Publication Date





516 - 520


Cataract, Chromosome Mapping, Chromosomes, Human, X, Congenital Abnormalities, Exons, Female, Genetic Linkage, Genetic Markers, Humans, Intellectual Disability, Lod Score, Male, Pedigree, Polymorphism, Single-Stranded Conformational, Recombination, Genetic, Syndrome