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Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454823/ https://www.ncbi.nlm.nih.gov/pubmed/37628591 http://dx.doi.org/10.3390/genes14081539 |
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author | Shalata, Adel Bar-Shai, Marina Hadid, Yarin Mahroum, Muhammad Mintz, Hila Shalata, Zaher Eldin Radzishevsky, Evgeny Genizi, Jacob Lorber, Avraham Ben-Yosef, Tamar Yaniv, Liat |
author_facet | Shalata, Adel Bar-Shai, Marina Hadid, Yarin Mahroum, Muhammad Mintz, Hila Shalata, Zaher Eldin Radzishevsky, Evgeny Genizi, Jacob Lorber, Avraham Ben-Yosef, Tamar Yaniv, Liat |
author_sort | Shalata, Adel |
collection | PubMed |
description | Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management. |
format | Online Article Text |
id | pubmed-10454823 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104548232023-08-26 Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature Shalata, Adel Bar-Shai, Marina Hadid, Yarin Mahroum, Muhammad Mintz, Hila Shalata, Zaher Eldin Radzishevsky, Evgeny Genizi, Jacob Lorber, Avraham Ben-Yosef, Tamar Yaniv, Liat Genes (Basel) Article Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management. MDPI 2023-07-27 /pmc/articles/PMC10454823/ /pubmed/37628591 http://dx.doi.org/10.3390/genes14081539 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Shalata, Adel Bar-Shai, Marina Hadid, Yarin Mahroum, Muhammad Mintz, Hila Shalata, Zaher Eldin Radzishevsky, Evgeny Genizi, Jacob Lorber, Avraham Ben-Yosef, Tamar Yaniv, Liat Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title | Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title_full | Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title_fullStr | Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title_full_unstemmed | Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title_short | Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature |
title_sort | danon disease: entire lamp2 gene deletion with unusual clinical presentation—case report and review of the literature |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454823/ https://www.ncbi.nlm.nih.gov/pubmed/37628591 http://dx.doi.org/10.3390/genes14081539 |
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