| Autor: |
Zhang, Luyan, Yang, Fan, Chen, Mei, Zhou, Ming, Qian, Tianwei, Mujtaba, Mohammed Omer, Mohammed, Abdul Haseeb, Yin, Jie, Cheng, Xueying, Chen, Jinlong, Qin, Yuming, Yang, Shiwei |
| Předmět: |
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| Zdroj: |
Frontiers in Genetics; 1/11/2021, Vol. 11, pN.PAG-N.PAG, 6p |
| Abstrakt: |
Danon disease (DD) is a monogenic lysosomal storage disorder characterized by cardiomyopathy, skeletal myopathy, and variable degrees of intellectual disability. It is caused by a deficiency of lysosomal-associated membrane protein 2 (LAMP2). Two unrelated boys who presented with severe hypertrophic cardiomyopathy and elevated levels of liver enzymes, and were diagnosed with Danon disease at a very young age, were investigated. One boy was diagnosed at 4 months old and died soon after; his mother also died of hypertrophic cardiomyopathy shortly after his birth. Another developed hypertrophic cardiomyopathy at 3 months old but reported no significant cardiovascular symptoms during more than 5 years follow-up. Genetic screening found compound variants of LAMP2 and MYH7 in both of them. This report highlights the clinical heterogeneity in DD. The timely identification of LAMP2 mutation plays a critical role in their treatment and family counseling. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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