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.)

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Date of Report May 13, 2016
Full Gene Name Calcium voltage-gated channel subunit alpha1 A
Location Chromosome 19 (19p13.3)
Ideogram: CACNA1A gene on chromosome 19

Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
Function The CACNA1A gene codes for the alpha-1 subunit of the CaV2.1 calcium channel. This subunit helps to form the pore of the channel where ions flow (Kordasiewicz et al., 2006 ).
Database Links GeneCards: GC19M013178 NCBI Gene: 773 OMIM: 601011 UniProtKB/Swiss-Prot: O00555
Clinical Significance Changes in the CACNA1A gene have been found in individuals with episodic ataxia, familial hemiplegic migraines, and spinocerebellar ataxia.
A change in the CACNA1A gene was also identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, an 8-year-old female with a neurological condition, was found to carry the following de novo genetic variant in the CACNA1A gene: c.5018G>C/p.R1673P.
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
CACNA1A autosomal dominant chr19:13346480 NM_001127221.1 c.5018G>C p.R1673P
p.Arg1673Pro
When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in myelination of deep white matter in the brain. At age 3, she had another brain MRI that showed a decrease in the area of the brain called the cerebellum. She does not have a history of seizures. Currently the patient is able to sit, crawl, and walk with the assistance of a walker. However, she does lose stability easily and primarily uses a wheelchair. She does not communicate verbally, but does communicate through sign language and an iPad. Overall the patient is delayed developmentally, but is making progress in gaining developmental skills and has not regressed in any skills. She feeds herself and is very social, engaged, and friendly.

Some of her other features include:

  • Low muscle tone (hypotonia)
  • Problems with coordination (ataxia)
  • Reflexes occur more slowly (depressed deep tendon reflexes)
  • Decrease in the area of the brain called the cerebellum (cerebellar atrophy and hypoplasia)
  • Delayed development
  • Nonverbal, but excellent receptive language (expressive language disorder)
  • Eyes cross when trying to see clearly (accommodative esotropia)
  • Farsightedness (hyperopia)
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