LRRC7

On this page, you will find information about genetic changes that were identified in UDN participants. 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.

Changes in this gene were identified in two UDN participants. One of these participants is a 3-year-old female with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus) (read full description).

Date of Report

Sep 25, 2019

Full Name

leucine rich repeat containing 7

Location
Chromosome 1 (1p31.1)


Function

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).

Database Links

GeneCards: GC01P069567

NCBI Gene: 57554

OMIM: 614453

UniProtKB/Swiss-Prot: Q96NW7

Clinical Significance

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)

Gene LRRC7
Inheritance Pattern see gene page
Position see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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