Proton-coupled zinc antiporter SLC30A9, mitochondrial
regulation of mitochondrion organization
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
An <i>SLC30A9-</i>associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling and nuclear regulation, as well as in cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss-of-function <i>SLC30A9</i> variants from unrelated parents. To our knowledge, this is the first reported case of a possible <i>SLC30A9-</i>associated cerebrorenal syndrome in a nonconsanguineous family. Furthermore, a limited statistical analysis was conducted to identify possible allele frequency differences between populations. Our findings provide further support for an <i>SLC30A9</i>-associated cerebrorenal syndrome and may help clarify the gene's function through its possible disease association.