Apr 25, 2016
Rho guanine nucleotide exchange factor 17
The ARHGEF17 gene codes for a guanine nucleotide exchange factor for RhoA GTPases (Rümenapp et al., 2002 ).
Changes in the ARHGEF17 gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.
The participant, a 2-year-old Caucasian female with an undiagnosed condition, was found to carry two copies of the following genetic variant in the ARHGEF17 gene: c.6110G>A/p.R2037Q.
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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