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.)

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Date of Report April 25, 2016
Full Gene Name Dual oxidase 2
Location Chromosome 15 (15q21.1)
Ideogram: DUOX2 gene on chromosome 15

Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
Function The DUOX2 gene codes for a protein involved in the protein complex responsible for the synthesis of thyroid hormone (De Deken et al., 2000 ).
Database Links GeneCards: GC15M045092 NCBI Gene: 50506 OMIM: 606759 UniProtKB/Swiss-Prot: Q9NRD8
Clinical Significance A change in the DUOX2 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.
The participant, a 2-year-old Caucasian female with an undiagnosed condition, was found to carry the following genetic variant in the DUOX2 gene: c.602dupG/p.Q202TfsX99.
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
DUOX2 autosomal dominant chr15:45403695 NM_014080.4 c.602dupG p.Q202TfsX99
After birth, the patient was found to be missing a thyroid (absent thyroid). She proceeded to have difficulty feeding, which may have been the result of facial paralysis. At 9 months, she was brought to the hospital with swelling around both eyes and a biopsy showed atypical histiocytic cells. Her blood pressure has been consistently elevated and she has had intermittent transaminitis. She has also had several bacterial and fungal infections; raised red plaques on her elbows, chest, and face; and one episode of fingertip peeling, which lasted for 2 months. Recently a muscle biopsy of the thigh showed polymyositis, which has caused atrophy of the pelvis and thighs (proximal muscles) and secondary mitochondrial depletion.

Some of her other features include:

  • Primary immune deficiency (low IGG)
  • Improper closing of soft palate muscle in mouth when speaking (velopharyngeal insufficiency)
  • Elevated hemidiaphragm
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