title: Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
abstract: 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.
authors.affiliation: Service de Génétique, Hôpital Bretonneau, Centre Hospitalo-Universitaire, Tours, France. toutain@med.univ-tours.fr
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Benoît
authors.initials: B
authors.lastname: Dessay
authors.forename: Nathalie
authors.initials: N
authors.lastname: Ronce
authors.forename: Maria-Immacolata
authors.initials: MI
authors.lastname: Ferrante
authors.forename: Julie
authors.initials: J
authors.lastname: Tranchemontagne
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: John
authors.initials: J
authors.lastname: Burn
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Annick
authors.initials: A
authors.lastname: Rossi
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Ian
authors.initials: I
authors.lastname: Walpole
authors.forename: James K
authors.initials: JK
authors.lastname: Hartsfield
authors.forename: Nina
authors.initials: N
authors.lastname: Oyen
authors.forename: Andrea
authors.initials: A
authors.lastname: Nemeth
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
authors.forename: Dorothy
authors.initials: D
authors.lastname: Trump
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Brunella
authors.initials: B
authors.lastname: Franco
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D000013:Congenital Abnormalities / Q000235:genetics*; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008126:Lod Score; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011995:Recombination, Genetic; D013577:Syndrome
chemical_list: D005819:Genetic Markers