Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

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Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48.
Original languageEnglish
JournalClinical Genetics
Issue number4
Pages (from-to)388-397
Number of pages10
Publication statusPublished - 2010

    Research areas

  • Base Sequence, Cataract, Chromosome Mapping, Chromosomes, Human, Pair 15, Consanguinity, DNA Mutational Analysis, Denmark, Female, Genetic Linkage, Genetic Loci, Genotype, Humans, Lod Score, Male, Mutation, Netherlands, Pedigree, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Retinitis Pigmentosa, Sequence Analysis, DNA, Usher Syndromes

ID: 45424121