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DD is characterized by cognitive deficit, myopathy, and cardiomyopathy in male patients. The phenotype is variable and mitigated in females. The timely identification of <jats:italic>de\u2010novo LAMP2<\/jats:italic> mutated family members, many of whom are heterozygous females, remains critical for their treatment and family counseling. DD laboratory testing builds on minimally invasive quantification of the LAMP2 protein in white blood cells and characterization of the specific mutation. This integrative approach is particularly helpful when assessing suspect female heterozygotes. <jats:italic>LAMP2<\/jats:italic> exon\u2010copy number variations (eCNVs) were so far reported only in X\u2010hemizygous male DD probands. In heterozygous female DD probands, the wild\u2010type allele may hamper the identification of an eCNV even if it results in the complete abolition of <jats:italic>LAMP2<\/jats:italic> transcription and\/or translation. To document the likely underappreciated rate of occurrence and point out numerous potential pitfalls of detection of the <jats:italic>LAMP2<\/jats:italic> eCNVs, we present the first two DD heterozygote female probands who harbor novel multi\u2010exon <jats:italic>LAMP2<\/jats:italic> deletions. Critical for counseling and recurrence prediction, we also highlight the need to search for somatic\u2010germinal mosaicism in DD families.<\/jats:p>","DOI":"10.1002\/ajmg.a.40430","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T15:40:23Z","timestamp":1536421223000},"page":"2430-2434","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>LAMP2<\/i> exon\u2010copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?"],"prefix":"10.1002","volume":"176","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 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