LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10387272" target="_blank" >RIV/00216208:11110/18:10387272 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10387272 RIV/00216208:11130/18:10387272 RIV/00023001:_____/18:00077397 RIV/00064165:_____/18:10387272
Result on the web
<a href="https://doi.org/10.1002/ajmg.a.40430" target="_blank" >https://doi.org/10.1002/ajmg.a.40430</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.40430" target="_blank" >10.1002/ajmg.a.40430</a>
Alternative languages
Result language
angličtina
Original language name
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Original language description
Danon disease (DD) is an X-linked disorder caused by mutations in the lysosomal-associated membrane protein 2 (LAMP2) gene (Xq24). DD is characterized by cognitive deficit, myopathy, and cardiomyopathy in male patients. The phenotype is variable and mitigated in females. The timely identification of de-novo LAMP2 mutated family members, many of whom are heterozygous females, remains critical for their treatment and family counseling. DD laboratory testing builds on minimally invasive quantification of the LAMP2 protein in white blood cells and characterization of the specific mutation. This integrative approach is particularly helpful when assessing suspect female heterozygotes. LAMP2 exon-copy number variations (eCNVs) were so far reported only in X-hemizygous male DD probands. In heterozygous female DD probands, the wild-type allele may hamper the identification of an eCNV even if it results in the complete abolition of LAMP2 transcription and/or translation. To document the likely underappreciated rate of occurrence and point out numerous potential pitfalls of detection of the LAMP2 eCNVs, we present the first two DD heterozygote female probands who harbor novel multi-exon LAMP2 deletions. Critical for counseling and recurrence prediction, we also highlight the need to search for somatic-germinal mosaicism in DD families. (C) 2018 Wiley Periodicals, Inc.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics: Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
176
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
2430-2434
UT code for WoS article
000456950200026
EID of the result in the Scopus database
2-s2.0-85052934581