Paula and Bobby
Parents of Lillie
ADGRG2-related Congenital Bilateral Absence of Vas Deferens
What is ADGRG2-related Congenital Bilateral Absence of Vas Deferens?
ADGRG2-related Congenital Bilateral Absence of Vas Deferens is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Patat et al. (2016) identified three different protein-truncating hemizygous mutations in the ADGRG2 gene in four subjects from three families with congenital bilateral absence of vas deferens. ADGRG2 gene encodes the epididymal- and efferent-ducts-specific adhesion G protein-coupled receptor G2. Previous studies demonstrated that Adgrg2-knockout male mice develop obstructive infertility.
* This information is courtesy of the L M D.
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What gene changes cause ADGRG2-related Congenital Bilateral Absence of Vas Deferens?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of ADGRG2-related Congenital Bilateral Absence of Vas Deferens?
The typical symptoms of the syndrome are:
How does someone get tested for ADGRG2-related Congenital Bilateral Absence of Vas Deferens?
The initial testing for ADGRG2-related Congenital Bilateral Absence of Vas Deferens 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.
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