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Mutations in <jats:italic>CUL4B<\/jats:italic> result in Cabezas syndrome (CS). Male CS patients present with dysmorphic, neuropsychiatric, genitourinary, and endocrine abnormalities. Heterozygous CS females are clinically asymptomatic. <jats:italic>LAMP2<\/jats:italic> 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 <jats:italic>ATP1B4<\/jats:italic>, <jats:italic>TMEM255A<\/jats:italic>, and <jats:italic>ZBTB33<\/jats:italic> genes. To facilitate diagnostics and counseling in CS and DD families, we present a female DD patient with a de novo <jats:italic>Alu<\/jats:italic>\u2010mediated <jats:italic>Xq24<\/jats:italic> rearrangement causing a deletion encompassing <jats:italic>CUL4B<\/jats:italic>, <jats:italic>LAMP2<\/jats:italic>, and also the other three neighboring genes. Typical to females heterozygous for <jats:italic>CUL4B<\/jats:italic> mutations, the patient was CS asymptomatic, however, presented with extremely skewed X\u2010chromosome 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 <jats:italic>CUL4B<\/jats:italic> and <jats:italic>LAMP2<\/jats:italic> loss\u2010of\u2010function copy number variations occur and speculate that male patients carrying similar defects could present with features of both CS and DD.<\/jats:p>","DOI":"10.1002\/ajmg.a.61416","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T08:45:12Z","timestamp":1573807512000},"page":"219-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<i>Alu<\/i>\u2010mediated <i>Xq24<\/i> deletion encompassing <i>CUL4B<\/i>, <i>LAMP2<\/i>, <i>ATP1B4<\/i>, <i>TMEM255A<\/i>, and <i>ZBTB33<\/i> genes causes Danon disease in a female patient"],"prefix":"10.1002","volume":"182","author":[{"given":"Filip","family":"Majer","sequence":"first","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine 1st Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bohdan","family":"Kousal","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine 1st Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"},{"name":"Department of Ophthalmology 1st Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Dusek","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience 1st Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"},{"name":"Department of Radiology 1st Faculty of Medicine, Charles University and General University Hospital  Prague Czech 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