Sep 25, 2019
leucine rich repeat containing 7
The LRRC7 gene codes for a protein called Densin-180, which is expressed primarily in the brain and is involved in the synaptic regions of neurons (Izawa et al., 2002).
Changes in the LRRC7 gene were identified in two UDN participants. Research is underway to see if these changes are causing symptoms in these participants.
Participant 144, a 3-year-old female with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus) was found to carry the following genetic change in the LRRC7 gene: c.547C>A / p.Leu183Met (position: chr1:70397203, transcript: NM_020794.2)
Another UDN participant, a 6-year-old male with abnormal gait (gait ataxia), abnormal brain imaging (cerebellar atrophy), and reduced function of reflexes (hyporeflexia) was found to carry the following genetic change in the LRRC7 gene: c.773T>C / p.Leu258Pro (position: chr1:70452025, transcript: NM_020794.2)
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