Paula and Bobby
Parents of Lillie
Brugada syndrome 1
What is Brugada syndrome 1?
Brugada syndrome 1 is a rare disease. It is also known as Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Nocturnal Death Syndrome; Sunds.
* This information is courtesy of the L M D.
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What gene changes cause Brugada syndrome 1?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 601144 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
DLG1 - 3q29
KCNJ8 - 12p12.1
KCNH2 - 7q36.1
SCN1B - 19q13.11
SCN3B - 11q24.1
SCN5A - 3p22.2
RANGRF - 17p13.1
ANK2 - 4q25-q26
HEY2 - 6q22.31
CACNB2 - 10p12.33-p12.31
CACNA1C - 12p13.33
KCNE3 - 11q13.4
ABCC9 - 12p12.1
HCN4 - 15q24.1
KCND3 - 1p13.2
GPD1L - 3p22.3
CALM2 - 2p21
SLMAP - 3p14.3
SCN2B - 11q23.3
AKAP9 - 7q21.2
SCN10A - 3p22.2
PKP2 - 12p11.21
CACNA2D1 - 7q21.11
TRPM4 - 19q13.33
CAV3 - 3p25.3
What are the main symptoms of Brugada syndrome 1?
The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Cardiac arrest, Ventricular fibrillation, Sudden death
How does someone get tested for Brugada syndrome 1?
The initial testing for Brugada syndrome 1 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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