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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 the CFTR gene was identified in a UDN participant with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)
Dec 01, 2023
CF Transmembrane Conductance Regulator
Cystic fibrosis transmembrane conductance regulator acts as a chloride channel and is responsible for the transport of water and ions in epithelial tissues, as well as fluid homeostasis (Shah et al., 2016).
A heterozygous change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!