Autosomal recessive <i>SLC30A9</i> Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

Abstract An SLC30A9- associated cerebro-renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as well as cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss-of-function SLC30A9 variants from unrelated parents. To our knowledge, this is the first reported case of a possible SLC30A9- associated cerebro-renal syndrome in a non-consanguineous family. Furthermore, a limited statistical analysis was conducted to identify possible allele frequency differences between populations. Our findings provide further support for an SLC30A9 -associated cerebro-renal syndrome and may help further clarify the gene’s function.