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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
F. Majer, B. Kousal, P. Dusek, L. Piherova, M. Reboun, R. Mihalova, J. Gurka, A. Krebsova, H. Vlaskova, L. Dvorakova, J. Krihova, P. Liskova, S. Kmoch, T. Kalina, M. Kubanek, J. Sikora,
Language English Country United States
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Grant support
CZ.2.16/3.1.00/24505
Magistrát hlavního města Prahy, Česká Republika - International
NCMG LM2015091
Ministerstvo Školství, Mládeže a Tělovýchovy České Republiky - International
LO1604
Ministerstvo Školství, Mládeže a Tělovýchovy České Republiky - International
AZV-MZ ČR 15-27682A
Ministerstvo Zdravotnictví České Republiky - International
NV19-08-00122
Ministerstvo Zdravotnictví České Republiky - International
RVO-VFN 64165/2012
Ministerstvo Zdravotnictví České Republiky - International
VZ IKEM (00023001)
Ministerstvo Zdravotnictví České Republiky - International
PROGRESS Q25
Univerzita Karlova v Praze - International
PROGRESS Q26
Univerzita Karlova v Praze - International
SVV UK 260367/2017
Univerzita Karlova v Praze - International
UNCE 204064
Univerzita Karlova v Praze - International
NV15-27682A
MZ0
CEP Register
Digital library NLK
Full text - Article
NLK
Medline Complete (EBSCOhost)
from 2012-06-01 to 1 year ago
PubMed
31729179
DOI
10.1002/ajmg.a.61416
Knihovny.cz E-resources
- MeSH
- Chromosome Deletion MeSH
- Adult MeSH
- Alu Elements genetics MeSH
- Exons genetics MeSH
- Glycogen Storage Disease Type IIb diagnosis genetics physiopathology MeSH
- X Chromosome Inactivation genetics MeSH
- Cardiomyopathies genetics physiopathology MeSH
- Cullin Proteins genetics MeSH
- Humans MeSH
- Lysosomal-Associated Membrane Protein 2 genetics MeSH
- X-Linked Intellectual Disability genetics physiopathology MeSH
- Loss of Function Mutation genetics MeSH
- Myocardium metabolism MeSH
- Sodium-Potassium-Exchanging ATPase genetics MeSH
- Transcription Factors genetics MeSH
- DNA Copy Number Variations genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Cullin 4B (CUL4B), lysosomal-associated membrane protein Type 2 (LAMP2), ATP1B4, TMEM255A, and ZBTB33 are neighboring genes on Xq24. Mutations in CUL4B result in Cabezas syndrome (CS). Male CS patients present with dysmorphic, neuropsychiatric, genitourinary, and endocrine abnormalities. Heterozygous CS females are clinically asymptomatic. LAMP2 mutations cause Danon disease (DD). Cardiomyopathy is a dominant feature of DD present in both males and heterozygous females. No monogenic phenotypes have been associated with mutations in ATP1B4, TMEM255A, and ZBTB33 genes. To facilitate diagnostics and counseling in CS and DD families, we present a female DD patient with a de novo Alu-mediated Xq24 rearrangement causing a deletion encompassing CUL4B, LAMP2, and also the other three neighboring genes. Typical to females heterozygous for CUL4B mutations, the patient was CS asymptomatic, however, presented with extremely skewed X-chromosome inactivation (XCI) ratios in peripheral white blood cells. As a result of the likely selection against CUL4B deficient clones, only minimal populations (~3%) of LAMP2 deficient leukocytes were identified by flow cytometry. On the contrary, myocardial LAMP2 protein expression suggested random XCI. We demonstrate that contiguous CUL4B and LAMP2 loss-of-function copy number variations occur and speculate that male patients carrying similar defects could present with features of both CS and DD.
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Department of Psychology Thomayer Hospital Prague Czech Republic
References provided by Crossref.org
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