Key result
Novel PPP1R13L variant expands phenotypic spectrum of severe cardiocutaneous syndrome with dilated cardiomyopathy.
Why the study?
PPP1R13L-associated cardiocutaneous syndrome is a rare autosomal recessive condition causing life-threatening dilated cardiomyopathy in early childhood with variable ectodermal features and unclear phenotype spectrum.
Identifies a novel genetic variant in PPP1R13L associated with early childhood dilated cardiomyopathy and ectodermal features.
May prompt PPP1R13L testing in early pediatric dilated cardiomyopathy with ectodermal signs; leaves open natural history and targeted interventions.
PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype.
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Henry et al. (2022) studied this question. A novel PPP1R13L variant expands the phenotype of a rare autosomal recessive cardiocutaneous syndrome characterized by life-threatening dilated cardiomyopathy and ectodermal features.
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