Published on Thu Jul 22 2021

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

Kleyner, R., Mohammad, A., Marchi, E., Horowitz, N., Haworth, A., King, B., Amble, K., Gavin, M., Velinov, M., Lyon, G. J.

An SLC30A9 associated cerebro renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al in 2017. The function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as well as cell

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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 nonconsanguineous 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 function of this gene.