Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity
- Robert Kleyner1,2,
- Mohammad Arif1,
- Elaine Marchi1,
- Naomi Horowitz1,
- Andrea Haworth3,
- Brian King3,
- Maureen Gavin4,
- Karen Amble4,
- Milen Velinov1,5 and
- Gholson J. Lyon1,4,6
- 1Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA;
- 2Renaissance School of Medicine (MD Program), State University of New York at Stony Brook, Stony Brook, New York 11794-8434, USA;
- 3Congenica Limited, BioData Innovation Centre, Wellcome Genome Campus, Cambridge, CB10 1DR, United Kingdom;
- 4George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA;
- 5Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey 08901, USA;
- 6Biology PhD Program, The Graduate Center, The City University of New York, New York, New York 10010, USA
- Corresponding author: gholsonjlyon{at}gmail.com; Gholson.J.Lyon{at}opwdd.ny.gov
Abstract
An SLC30A9-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 SLC30A9 variants from unrelated parents. To our knowledge, this is the first reported case of a possible SLC30A9-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 SLC30A9-associated cerebrorenal syndrome and may help clarify the gene's function through its possible disease association.
Footnotes
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[Supplemental material is available for this article.]
- Received August 2, 2021.
- Accepted October 15, 2021.
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