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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10192039%21RIV15-MSM-11130___
rdf:type
skos:Concept n19:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1007/s10545-013-9617-z
dcterms:description
Alu-mediated tandem duplication of exons 4 and 5 (g.15815_22218dup6404) is a novel mutation that has been detected in the LAMP2 gene (Xq24). This exon copy number variation was found in two brothers with the typical phenotype of Danon disease, including characteristic myocardial changes on magnetic resonance imaging. The 6.4 kb duplication was identified in both boys by a combination of exon dosage qPCR analyses and duplication breakpoint/junction mapping. The rearrangement results in a plethora of abnormal LAMP2 splicing variants and also in use of likely cryptic splice sites in the 3' terminus of LAMP2 gene. Although we found minute amounts of normal LAMP2B and LAMP2A mRNAs, no protein was detectable in peripheral blood leukocytes by flow cytometry in both brothers. Uniquely, the fraction of LAMP2-deficient granulocytes (0.06 %) assessed by flow cytometry in the patients' asymptomatic mother substantially differed from the random distribution of X-chromosome inactivation in her leukocytes. This discrepancy was later explained by molecular genetic methods as a consequence of mosaic distribution of the mutation in her somatic tissues. Altogether, we report a novel and mosaically distributed exon copy number rearrangement in the LAMP2 gene and comment on obstacles this genetic setup presents to the overall cellular and molecular diagnostic algorithm of Danon disease. Our observations of the mosaicism in the asymptomatic mother suggest that similarly affected females could be a potentially under-diagnosed Danon disease carrier group and that LAMP2 flow cytometry, because of its supreme sensitivity, can be an efficient method for pedigree screening. Alu-mediated tandem duplication of exons 4 and 5 (g.15815_22218dup6404) is a novel mutation that has been detected in the LAMP2 gene (Xq24). This exon copy number variation was found in two brothers with the typical phenotype of Danon disease, including characteristic myocardial changes on magnetic resonance imaging. The 6.4 kb duplication was identified in both boys by a combination of exon dosage qPCR analyses and duplication breakpoint/junction mapping. The rearrangement results in a plethora of abnormal LAMP2 splicing variants and also in use of likely cryptic splice sites in the 3' terminus of LAMP2 gene. Although we found minute amounts of normal LAMP2B and LAMP2A mRNAs, no protein was detectable in peripheral blood leukocytes by flow cytometry in both brothers. Uniquely, the fraction of LAMP2-deficient granulocytes (0.06 %) assessed by flow cytometry in the patients' asymptomatic mother substantially differed from the random distribution of X-chromosome inactivation in her leukocytes. This discrepancy was later explained by molecular genetic methods as a consequence of mosaic distribution of the mutation in her somatic tissues. Altogether, we report a novel and mosaically distributed exon copy number rearrangement in the LAMP2 gene and comment on obstacles this genetic setup presents to the overall cellular and molecular diagnostic algorithm of Danon disease. Our observations of the mosaicism in the asymptomatic mother suggest that similarly affected females could be a potentially under-diagnosed Danon disease carrier group and that LAMP2 flow cytometry, because of its supreme sensitivity, can be an efficient method for pedigree screening.
dcterms:title
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
skos:prefLabel
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
skos:notation
RIV/00216208:11130/14:10192039!RIV15-MSM-11130___
n3:aktivita
n13:Z n13:I
n3:aktivity
I, Z(MSM0021620806)
n3:cisloPeriodika
1
n3:dodaniDat
n5:2015
n3:domaciTvurceVysledku
n6:7400705
n3:druhVysledku
n16:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n20:predkladatel
n3:idSjednocenehoVysledku
30579
n3:idVysledku
RIV/00216208:11130/14:10192039
n3:jazykVysledku
n17:eng
n3:klicovaSlova
autophagy; deficiency; cardiomyopathy; gene; mutation
n3:klicoveSlovo
n8:deficiency n8:gene n8:mutation n8:cardiomyopathy n8:autophagy
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[D85E39C2ED4D]
n3:nazevZdroje
Journal of Inherited Metabolic Disease
n3:obor
n9:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
12
n3:rokUplatneniVysledku
n5:2014
n3:svazekPeriodika
37
n3:tvurceVysledku
Zeman, Jiří Kuchynka, Petr Mašek, Martin Vlášková, Hana Kalina, Tomáš Paleček, Tomáš Pelák, Ondřej Dvořáková, Lenka Sikora, Jakub Honzík, Tomáš Majer, Filip Elleder, Milan
n3:wos
000329100200015
n3:zamer
n14:MSM0021620806
s:issn
0141-8955
s:numberOfPages
8
n15:doi
10.1007/s10545-013-9617-z
n12:organizacniJednotka
11130