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Disruption of the <jats:italic>Rnx<\/jats:italic> gene, a member of the Hox11 family of homeobox genes, in embryonic stem cells produced mice showing a phenotype similar to CCHS. Based on this observation, we have carried out mutation screening of the <jats:italic>RNX<\/jats:italic> gene in a set of 13 patients affected with CCHS, 2 of whom showing association with Hirschsprung disease. Single\u2010strand conformational polymorphism analysis and direct sequencing of the whole coding portion of the <jats:italic>RNX<\/jats:italic> gene and of 1,311 bp of 5\u2032 flanking region were performed. No sequence variant was identified, with the exception of a private nucleotide change at position \u2212874 bp from the ATG codon in two siblings affected with isolated CCHS. A functional test, performed by using the luciferase gene reporter system, has not shown any significant difference in the activity of the promoter region carrying this latter nucleotide change with respect to the wild\u2010type allele. We conclude that <jats:italic>RNX<\/jats:italic>, and presumably its expression, are not altered in our index cases of CCHS. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10746","type":"journal-article","created":{"date-parts":[[2002,10,30]],"date-time":"2002-10-30T14:19:03Z","timestamp":1035987543000},"page":"178-182","source":"Crossref","is-referenced-by-count":17,"title":["Mutational analysis of the <i>RNX<\/i> gene in congenital central hypoventilation 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