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

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Standard

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. / Dad, S.; Østergaard, Elsebet; Thykjær, T.; Albrechtsen, Anders; Ravn, Kirstine Johanne Theresia; Rosenberg, T.; Møller, Lisbeth Birk.

In: Clinical Genetics, Vol. 78, No. 4, 2010, p. 388-397.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Dad, S, Østergaard, E, Thykjær, T, Albrechtsen, A, Ravn, KJT, Rosenberg, T & Møller, LB 2010, 'Identification of a novel locus for a USH3 like syndrome combined with congenital cataract', Clinical Genetics, vol. 78, no. 4, pp. 388-397. https://doi.org/10.1111/j.1399-0004.2010.01393.x

APA

Dad, S., Østergaard, E., Thykjær, T., Albrechtsen, A., Ravn, K. J. T., Rosenberg, T., & Møller, L. B. (2010). Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Clinical Genetics, 78(4), 388-397. https://doi.org/10.1111/j.1399-0004.2010.01393.x

Vancouver

Dad S, Østergaard E, Thykjær T, Albrechtsen A, Ravn KJT, Rosenberg T et al. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Clinical Genetics. 2010;78(4):388-397. https://doi.org/10.1111/j.1399-0004.2010.01393.x

Author

Dad, S. ; Østergaard, Elsebet ; Thykjær, T. ; Albrechtsen, Anders ; Ravn, Kirstine Johanne Theresia ; Rosenberg, T. ; Møller, Lisbeth Birk. / Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. In: Clinical Genetics. 2010 ; Vol. 78, No. 4. pp. 388-397.

Bibtex

@article{e27611c100f141ba81705e4da67bac3e,
title = "Identification of a novel locus for a USH3 like syndrome combined with congenital cataract",
abstract = "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.",
keywords = "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",
author = "S. Dad and Elsebet {\O}stergaard and T. Thykj{\ae}r and Anders Albrechtsen and Ravn, {Kirstine Johanne Theresia} and T. Rosenberg and M{\o}ller, {Lisbeth Birk}",
note = "{\textcopyright} 2010 John Wiley & Sons A/S.",
year = "2010",
doi = "10.1111/j.1399-0004.2010.01393.x",
language = "English",
volume = "78",
pages = "388--397",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

TY - JOUR

T1 - Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

AU - Dad, S.

AU - Østergaard, Elsebet

AU - Thykjær, T.

AU - Albrechtsen, Anders

AU - Ravn, Kirstine Johanne Theresia

AU - Rosenberg, T.

AU - Møller, Lisbeth Birk

N1 - © 2010 John Wiley & Sons A/S.

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Base Sequence

KW - Cataract

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 15

KW - Consanguinity

KW - DNA Mutational Analysis

KW - Denmark

KW - Female

KW - Genetic Linkage

KW - Genetic Loci

KW - Genotype

KW - Humans

KW - Lod Score

KW - Male

KW - Mutation

KW - Netherlands

KW - Pedigree

KW - Polymerase Chain Reaction

KW - Polymorphism, Single Nucleotide

KW - Retinitis Pigmentosa

KW - Sequence Analysis, DNA

KW - Usher Syndromes

U2 - 10.1111/j.1399-0004.2010.01393.x

DO - 10.1111/j.1399-0004.2010.01393.x

M3 - Journal article

C2 - 20236115

VL - 78

SP - 388

EP - 397

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -

ID: 45424121