ARHGEF17

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.

Date of Report

Apr 25, 2016

Full Name

Rho guanine nucleotide exchange factor 17

Location
Chromosome 11 (11q13.4)


Function

The ARHGEF17 gene codes for a guanine nucleotide exchange factor for RhoA GTPases (Rümenapp et al., 2002 ).

Database Links

GeneCards: GC11P073306

NCBI Gene: 9828

UniProtKB/Swiss-Prot: Q96PE2

Clinical Significance

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.

Gene ARHGEF17
Inheritance Pattern autosomal recessive
Position chr11:73078743
Transcript NM_014786.3
DNA Change c.6110G>A
Protein Change p.R2037Q p.Arg2037Gln

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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