Apr 25, 2016
Dual oxidase 2
The DUOX2 gene codes for a protein involved in the protein complex responsible for the synthesis of thyroid hormone (De Deken et al., 2000 ).
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.
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:
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