Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 Nov 26:e70007.
doi: 10.1002/ajmga.70007. Online ahead of print.

Expanding the Phenotype of Syndromic SLC30A9-Associated Disease

Naomi E Wagner  1 , Shadi M AlAshwal  1 , Jerica Lenberg  2 , Lynne M Bird  3   4 , Sophia Ceulemans  5 , Jennifer Friedman  3   5 , Shyamanga Borooah  1
Affiliations
Case Reports

Expanding the Phenotype of Syndromic SLC30A9-Associated Disease

Naomi E Wagner et al. Am J Med Genet A. .

Abstract

SLC30A9 mutations are linked to Birk-Landau-Perez syndrome, which is characterized by neurodevelopmental and renal disease, thought to result from impaired zinc homeostasis. In this report, we describe a patient with a homozygous likely pathogenic SLC30A9 variant with atypical chorio-retinal degeneration, suggesting retinal involvement in SLC30A9-associated diseases. The patient has bilateral sensorineural hearing loss, developmental delay, intellectual disability, abnormal balance, and Tourette syndrome. Ophthalmic manifestations include vascular attenuation, optic disc pallor, and pigmentation. In addition, the patient is noted to have high myopia. Our case highlights the importance of broad genetic testing in diagnosing rare multi-systemic disorders. Further research into the molecular mechanisms by which SLC30A9 results in photoreceptor disease is essential to understand its role in retinal degeneration and to develop potential therapeutic strategies.

Keywords: Birk‐Landau‐Perez syndrome; SLC30A9 gene; chorio‐retinal degeneration; retina.

PubMed Disclaimer

References

    1. Ahn, J., J. Chiang, and M. B. Gorin. 2020. “Novel Mutation in SLC4A7 Gene Causing Autosomal Recessive Progressive Rod‐Cone Dystrophy.” Ophthalmic Genetics 41, no. 4: 386–389. https://doi.org/10.1080/13816810.2020.1783691.
    1. Deng, H., X. Qiao, T. Xie, et al. 2021. “SLC‐30A9 Is Required for Zn2+ Homeostasis, Zn2+ Mobilization, and Mitochondrial Health.” Proceedings of the National Academy of Sciences of the United States of America (PNAS) 118, no. 35: e2023909118. https://doi.org/10.1073/pnas.2023909118.
    1. Fredriksson, R., K. J. V. Nordström, O. Stephansson, M. G. A. Hägglund, and H. B. Schiöth. 2008. “The Solute Carrier (SLC) Complement of the Human Genome: Phylogenetic Classification Reveals Four Major Families.” FEBS Letters 582, no. 27: 3811–3816. https://doi.org/10.1016/j.febslet.2008.10.016.
    1. Huang, L., and S. Tepaamorndech. 2013. “The SLC30 Family of Zinc Transporters—A Review of Current Understanding of Their Biological and Pathophysiological Roles.” Molecular Aspects of Medicine 34, no. 2–3: 548–560. https://doi.org/10.1016/j.mam.2012.05.008.
    1. Ishiura, H., Y. Fukuda, J. Mitsui, et al. 2011. “Posterior Column Ataxia With Retinitis Pigmentosa in a Japanese Family With a Novel Mutation in FLVCR1.” Neurogenetics 12, no. 2: 117–121. https://doi.org/10.1007/s10048‐010‐0271‐4.

Publication types

LinkOut - more resources