Partial USH2A deletions contribute to Usher syndrome in Denmark
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Partial USH2A deletions contribute to Usher syndrome in Denmark. / Dad, Shzeena ; Rendtorff, Nanna Dahl; Kann, Erik; Albrechtsen, Anders; M. Mehrjouy, Mana; Bak, Mads; Tommerup, Niels; Tranebjærg, Lisbeth; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth B.
In: European Journal of Human Genetics, Vol. 23, 2015, p. 1646-1651.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Y1 - 2015
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.European Journal of Human Genetics advance online publication, 25 March 2015; doi:10.1038/ejhg.2015.54.
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.European Journal of Human Genetics advance online publication, 25 March 2015; doi:10.1038/ejhg.2015.54.
UR - http://10.1038/ejhg.2015.131
U2 - 10.1038/ejhg.2015.54
DO - 10.1038/ejhg.2015.54
M3 - Journal article
C2 - 25804404
VL - 23
SP - 1646
EP - 1651
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
ER -
ID: 134951266