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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 7 with global developmental delay, hearing loss, gastrointestinal abnormalities, and absent saliva flow (xerostomia) (read full description).
Jul 17, 2019
solute carrier family 12 member 2
The SLC12A2 gene codes for a protein called NKCC1 (Na-K-2Cl cotransporter-1), which is important in sodium and chloride transport and reabsorption. (Payne et al., 1995)
A change in this gene was identified in a UDN participant (Macnamara et al. 2019). The site is looking for other individuals with heterozygous, compound heterozygous, or homozygous variants in this gene.
Interested in learning more about this gene or sharing what you know? Contact us!