The first case of Danon disease in Belarus, diagnosed by targeted NGS
https://doi.org/10.25557/2073-7998.2018.04.47-49
Abstract
The targeted NGS was used to search for mutations, associated with hypertrophic cardiomyopathy in a 28-year-old patient. TruSight Cardiomyopathy Sequencing panel allowed to detect c.864 + 3_864 + 6delGAGT deletion (rs397516751) that affects a natural splice site in intron 6 in the LAMP2 gene. The LAMP2 (lysosomal-associated membrane protein 2, Xq24) codes for a membrane glycoprotein necessary for lysosome adhesion and autophagy. Mutations in this gene are associated with Danon disease, which can manifest as a phenocopy of hypertrophic cardiomyopathy. The NGS made it possible to correct the diagnosis. Data of other clinical cases are presented in the article, confirming the pathogenicity of mutations that affect the donor splice site in intron 6 in the LAMP2 .
About the Authors
L. N. Sivitskaya
Институт генетики и цитологии НАН Беларуси
Russian Federation
Russian Federation
T. G. Vaikhanskaya
Республиканский научно-практический центр «Кардиология»
Russian Federation
Russian Federation
N. G. Danilenko
Институт генетики и цитологии НАН Беларуси
Russian Federation
Russian Federation
O. D. Liaudanski
Институт генетики и цитологии НАН Беларуси
Russian Federation
Russian Federation
T. V. Kurushka
Республиканский научно-практический центр «Кардиология»
Russian Federation
Russian Federation
O. G. Davydenko
Институт генетики и цитологии НАН Беларуси
Russian Federation
Russian Federation
References
1. Леонтьева И.В., Царегородцев Д.А. Болезнь Данона как причина гипертрофической кардиомиопатии // Российский вестник перинатологии и педиатрии. - 2015. - № 3. - C. 26-30
2. Tanaka Y., Guhde G., Suter A., et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice // Nature. - 2000. - Vol. 406. № 6798. - Р. 902-906
3. Danon M.J., Oh S.J., DiMauro S., et al. Lysosomal glycogen storage disease with normal acid maltase // Neurology - 1981. - Vol. 31. №1. - Р. 51-57
4. Charron P. Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey // Heart. - 2004. - Vol. 90. № 8. - P. 842-846
5. Boucek D., Jirikowic J., Taylor M. Natural history of Danon disease // Genet. Med. - 2011. - Vol. 13. № 6. - P. 563-568
6. Bui Y.K., Renella P., Martinez-Agosto J.A., et al. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation // Pediatr Transplant. - 2008. - Vol. 12. № 2. - P. 246-250
7. Horvath J., Ketelsen U-P., Geibel-Zehender A., et al. Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease // Neuropediatrics - 2003. - Vol. 34. № 5. - P. 270-273
8. Arad M., Maron B.J., Gorham J.M., et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy // N Engl J Med. - 2005. - Vol. 352. № 4. - P. 362-372
Review
For citations:
Sivitskaya L.N., Vaikhanskaya T.G., Danilenko N.G., Liaudanski O.D., Kurushka T.V., Davydenko O.G. The first case of Danon disease in Belarus, diagnosed by targeted NGS. Medical Genetics. 2018;17(4):47-49. (In Russ.) https://doi.org/10.25557/2073-7998.2018.04.47-49
Views:
813
Email this article 