{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:12:53Z","timestamp":1791252773840,"version":"4.1.0"},"reference-count":22,"publisher":"Pensoft Publishers","issue":"5","license":[{"start":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T00:00:00Z","timestamp":1667174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FM"],"abstract":"<jats:p>Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (<jats:italic>LAMP2<\/jats:italic>). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of <jats:italic>LAMP2<\/jats:italic> protein.<\/jats:p>\n          <jats:p>The present case reports the frameshift variant c.190_191del\u0410\u0421 in the <jats:italic>LAMP2<\/jats:italic> in the family with sudden cardiac death history and three members with cardiomyopathy. The presenting phenotype in a female proband with c.190_191del\u0410\u0421 was isolated dilated cardiomyopathy in her thirties whereas in two males, DD presented as hypertrophic cardiomyopathy and mild skeletal myopathy since childhood. To examine the contribution of X-inactivation to cardiomyopathy onset we estimated the X-inactivation status in the heart tissue of the affected female. We observed the random pattern (66:34) with the proportion of cardiomyocytes expressing healthy <jats:italic>LAMP2<\/jats:italic> allele reduced to 34%. Deletion c.190_191del\u0410\u0421 has led to a complete loss of function <jats:italic>LAMP2<\/jats:italic> due to a single copy of this gene in males. In a woman, cardiomyopathy developed because of both the <jats:italic>LAMP2<\/jats:italic> mutation and a decrease in the expression of a healthy allele in the heart.<\/jats:p>\n          <jats:p>Based on the strong association of truncating <jats:italic>LAMP2<\/jats:italic> mutations with DD and phenotypes in affected members, the variant c.190_191del\u0410\u0421 was classified as pathogenic.<\/jats:p>","DOI":"10.3897\/folmed.64.e66292","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T15:57:36Z","timestamp":1667231856000},"page":"853-862","source":"Crossref","is-referenced-by-count":2,"title":["New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation"],"prefix":"10.3897","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6359-4967","authenticated-orcid":true,"given":"Larysa","family":"Sivitskaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2127-8525","authenticated-orcid":true,"given":"Tatiyana","family":"Vaikhanskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Danilenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleh","family":"Liaudanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oleg","family":"Davydenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5189-3975","authenticated-orcid":true,"given":"Nikolai","family":"Zhelev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2258","published-online":{"date-parts":[[2022,10,31]]},"reference":[{"key":"66292_B1","doi-asserted-by":"crossref","unstructured":"1. 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