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

Autor:	Maureen Gavin, Andrea Haworth, Naomi Horowitz, Robert Kleyner, Elaine Marchi, Brian A. King, Milen Velinov, Gholson J. Lyon, Arif Mohammad, Karen Amble
Rok vydání:	2021
Předmět:	Proband Genetics Parental consanguinity Intellectual disability Wnt signaling pathway medicine General Medicine Biology Cerebro medicine.disease Gene Allele frequency Loss function
Zdroj:	Molecular Case Studies. :mcs.a006137
ISSN:	2373-2873 2373-2865
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::826ed61e8dced2d44e2d4a393f9740e3 https://doi.org/10.1101/mcs.a006137 Zobrazit plný text záznamu