Description:
<jats:title>Abstract</jats:title><jats:p>Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy. We describe four affected children of two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. In the four patients, we found the following homozygous loss of function (LoF) variants in <jats:italic>SLC30A5</jats:italic> NM_022902.4:c.832_836del p.(Ile278Phefs*33) and NM_022902.4:c.1981_1982del p.(His661Tyrfs*10). Knockout of <jats:italic>SLC30A5</jats:italic> has previously been shown a cardiac phenotype in mouse models and no homozygous LoF variants in <jats:italic>SLC30A5</jats:italic> are currently described in gnomAD. Taken together, we present <jats:italic>SLC30A5</jats:italic> as a new gene for a severe and perinatally lethal form of cardiomyopathy.</jats:p>