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

S. Dad; Elsebet Østergaard; T. Thykjær; Anders Albrechtsen; Kirstine Johanne Theresia Ravn; T. Rosenberg; Lisbeth Birk Møller

doi:10.1111/j.1399-0004.2010.01393.x

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

S. Dad, Elsebet Østergaard, T. Thykjær, Anders Albrechtsen, Kirstine Johanne Theresia Ravn, T. Rosenberg, Lisbeth Birk Møller

Bioinformatik og RNA Biologi

7 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	78
Udgave nummer	4
Sider (fra-til)	388-397
Antal sider	10
ISSN	0009-9163
DOI	https://doi.org/10.1111/j.1399-0004.2010.01393.x
Status	Udgivet - okt. 2010

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10.1111/j.1399-0004.2010.01393.x

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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}",

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year = "2010",

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doi = "10.1111/j.1399-0004.2010.01393.x",

language = "English",

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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

PY - 2010/10

Y1 - 2010/10

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

SN - 0009-9163

VL - 78

SP - 388

EP - 397

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -

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

Abstract

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