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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 female, age 10 with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility) (read full description).
Nov 05, 2018
The FBN1 gene codes for a protein involved in connective tissue distribution throughout the body (Sakai et al. 1986).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!