CACNA1A

On this page, you will find information about a genetic change that was identified in a UDN participant.

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Date of Report

May 13, 2016

Full Name

Calcium voltage-gated channel subunit alpha1 A

Location
Chromosome 19 (19p13.3)


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

Genetics Home Reference: CACNA1A

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 and other patients with similar symptoms (Luo et al, 2017).

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 CACNA1A
Inheritance Pattern Autosomal dominant
Position chr19:13346480
Transcript NM_001127221.1
DNA Change c.5018G>C
Protein Change 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:

  • 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)
  • Nonverbal, but excellent receptive language (expressive language disorder)
  • High blood pressure
  • Eyes cross when trying to see clearly (accommodative esotropia)
  • Farsightedness (hyperopia)
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