CACNA1A

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.

A change in the CACNA1A gene was identified in two UDN participants. One is a female, age 8, with hypotonia, delayed brain myelination, and developmental delays (read full description). The other is a male, age 16, with abnormal muscle twitching, saliva build up, and autism (read full description).

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: CACNA1A

MedlinePlus Genetics: CACNA1A

NCBI Gene: 773

OMIM: 601011

UniProtKB/Swiss-Prot: O00555

Clinical Significance

A change in this gene was identified in two UDN participants and other individuals with similar symptoms (Luo et al, 2017).

The changes identified in the UDN participants are as follows:

Participant 003, a 8-year-old female with hypotonia, delayed brain myelination, and developmental delays was found to carry the following genetic change in the CACNA1A gene:

c.5018G>C (inheritance pattern: autosomal dominant, position: chr19:g.13346480C>G, transcript: NM_001127221.1)

Clinicians and researchers believe that this genetic change is causing the participant’s symptoms.

Participant 218, a 16-year-old male with abnormal muscle twitching, saliva build up, and autism was found to carry the following genetic change in the CACNA1A gene:

c.3410C>T (inheritance pattern: autosomal dominant, position: chr19:g. 13286649G>A, transcript: NM_001127221.1)

Clinicians and researchers are investigating the genetic change to see if it is causing the participant’s symptoms.

Families affected by this condition have come together to form a Facebook group and nonprofit organization, the CACNA1A Foundation.

Gene CACNA1A

Inheritance Pattern Autosomal dominant

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

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