TY - JOUR
T1 - Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
AU - Toutain, Annick
AU - Dessay, Benoît
AU - Ronce, Nathalie
AU - Ferrante, Maria Immacolata
AU - Tranchemontagne, Julie
AU - Newbury-Ecob, Ruth
AU - Wallgren-Pettersson, Carina
AU - Burn, John
AU - Kaplan, Josseline
AU - Rossi, Annick
AU - Russo, Silvia
AU - Walpole, Ian
AU - Hartsfield, James K.
AU - Oyen, Nina
AU - Nemeth, Andrea
AU - Bitoun, Pierre
AU - Trump, Dorothy
AU - Moraine, Claude
AU - Franco, Brunella
PY - 2002
Y1 - 2002
N2 - 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 (χ=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.
AB - 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 (χ=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.
KW - Candidate gene analysis
KW - Chromosome Xp22.13
KW - Genetic mapping
KW - Nance-Horan syndrome
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U2 - 10.1038/sj.ejhg.5200846
DO - 10.1038/sj.ejhg.5200846
M3 - Article
C2 - 12173028
AN - SCOPUS:18544377051
SN - 1018-4813
VL - 10
SP - 516
EP - 520
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 9
ER -