Key result
Clinical exome sequencing identifies a novel LAMP2 variant confirming Danon disease with exclusive cardiac involvement.
Case Report (n=1)
Clinical exome sequencing can identify novel pathogenic variants in LAMP2 to confirm Danon disease in pediatric patients presenting with isolated cardiac involvement mimicking hypertrophic cardiomyopathy.
May support exome sequencing for unexplained pediatric HCM; extends LAMP2 spectrum but remains hypothesis-generating.
This paper presents the case of a 14-year-old boy with Danon disease exhibiting exclusive cardiac involvement, initially suspected as hypertrophic cardiomyopathy. Significant deterioration raised suspicion of an alternative etiology. A clinical exome revealed a previously unreported likely pathogenic variant, LAMP2:c.645_651del (p.LysAsnfs∗25), in hemizygous state, confirming the diagnosis of Danon disease.
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Guerra et al. (2024) conducted a case report in Danon disease (n=1). Clinical exome sequencing was evaluated on Diagnosis of Danon disease. Clinical exome sequencing identified a previously unreported likely pathogenic variant, LAMP2:c.645_651del, confirming Danon disease in a 14-year-old boy with exclusive cardiac involvement.
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