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We ruled out the involvement of <jats:italic>EYA1<\/jats:italic>, <jats:italic>SIX1<\/jats:italic>, and <jats:italic>SIX5<\/jats:italic> as candidate genes by direct sequencing of their exons and by SNP\u2010based linkage analysis. Subsequent SNP\u2010based whole\u2010genome genotyping and parametric multipoint linkage analysis gave lod scores &gt;1 at 14q31 (LOD\u2009=\u20093.14), 11q25 (LOD\u2009=\u20091.87), and 8p23 (LOD\u2009=\u20091.18). By genotyping additional microsatellite markers at two of these three loci and using an expanded phenotype definition, the LOD at 14q31 increased to 3.34. Direct sequencing of the gene exons within the 14q31 critical interval and a custom aCGH experiment did not show any pathogenic mutation or copy\u2010number changes. Further sequencing of 21\u2009kb of promoter regions showed a novel polymorphism 1,249\u2009bp upstream from the <jats:italic>SELIL<\/jats:italic> start codon that segregated with the disease haplotype. Cloning the novel polymorphism into luciferase reporter constructs resulted in a 20% reduction in the expression levels. The identification of this family with a distinctive clinical phenotype and linkage to a novel locus at 14q31 supports the existence of a new syndrome of the branchial cleft. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33971","type":"journal-article","created":{"date-parts":[[2011,4,7]],"date-time":"2011-04-07T20:25:46Z","timestamp":1302207946000},"page":"976-985","source":"Crossref","is-referenced-by-count":5,"title":["HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31"],"prefix":"10.1002","volume":"155","author":[{"given":"Srirangan","family":"Sampath","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bronya 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