Apr 25, 2016
Zinc finger and BTB domain containing 24
The ZBTB24 gene codes for a protein that seems to be involved in DNA methylation of juxtacentromeric DNA during B-cell development (de Greef et al., 2011 ).
A change in the ZBTB24 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 a single copy of the following genetic variant in the ZBTB24 gene: c.452C>G/p.S151C. A second variant was not detected, as expected for autosomal recessive inheritance.
Patient only has one variant
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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