Partial USH2A deletions contribute to Usher syndrome in Denmark

Shzeena  Dad; Nanna Dahl Rendtorff; Erik Kann; Anders Albrechtsen; Mana M. Mehrjouy; Mads Bak; Niels Tommerup; Lisbeth Tranebjærg; Thomas Rosenberg; Hanne Jensen; Lisbeth B. Møller

doi:10.1038/ejhg.2015.54

Partial USH2A deletions contribute to Usher syndrome in Denmark

Shzeena Dad, Nanna Dahl Rendtorff, Erik Kann, Anders Albrechtsen, Mana M. Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B. Møller

6 Citationer (Scopus)

Abstract

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	23
Sider (fra-til)	1646-1651
Antal sider	6
ISSN	1018-4813
DOI	https://doi.org/10.1038/ejhg.2015.54
Status	Udgivet - 1 dec. 2015

Adgang til dokumentet

10.1038/ejhg.2015.54

ejhg201554.pdfForlagets udgivne version, 1,9 MB

Andre filer og links

Erratum

Citationsformater

@article{221d0bfbbf384bee9de569b8e689bc8b,

title = "Partial USH2A deletions contribute to Usher syndrome in Denmark",

abstract = "Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.",

author = "Shzeena Dad and Rendtorff, {Nanna Dahl} and Erik Kann and Anders Albrechtsen and {M. Mehrjouy}, Mana and Mads Bak and Niels Tommerup and Lisbeth Tranebj{\ae}rg and Thomas Rosenberg and Hanne Jensen and M{\o}ller, {Lisbeth B.}",

note = "Erratum to: Partial USH2A deletions contribute to Usher syndrome in Denmark doi:10.1038/ejhg.2015.54",

year = "2015",

month = dec,

day = "1",

doi = "10.1038/ejhg.2015.54",

language = "English",

volume = "23",

pages = "1646--1651",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "nature publishing group",

}

TY - JOUR

T1 - Partial USH2A deletions contribute to Usher syndrome in Denmark

AU - Dad, Shzeena

AU - Rendtorff, Nanna Dahl

AU - Kann, Erik

AU - Albrechtsen, Anders

AU - M. Mehrjouy, Mana

AU - Bak, Mads

AU - Tommerup, Niels

AU - Tranebjærg, Lisbeth

AU - Rosenberg, Thomas

AU - Jensen, Hanne

AU - Møller, Lisbeth B.

N1 - Erratum to: Partial USH2A deletions contribute to Usher syndrome in Denmark doi:10.1038/ejhg.2015.54

PY - 2015/12/1

Y1 - 2015/12/1

N2 - Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.

AB - Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.

UR - http://10.1038/ejhg.2015.131

U2 - 10.1038/ejhg.2015.54

DO - 10.1038/ejhg.2015.54

M3 - Journal article

C2 - 25804404

SN - 1018-4813

VL - 23

SP - 1646

EP - 1651

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Partial USH2A deletions contribute to Usher syndrome in Denmark

Abstract

Adgang til dokumentet

Andre filer og links

Fingeraftryk

Citationsformater