Paula and Bobby
Parents of Lillie
Agtr2 - X-Linked Mental Retardation
What is Agtr2 - X-Linked Mental Retardation?
Agtr2 - X-Linked Mental Retardation is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Vervoort et al., (2002) studied a female patient with mental retardation who had a balanced X;7 translocation. Disruption of the AGTR2 gene was shown. This codes for the angiotensin receptor type 2. 590 males with mental retardation were also studied. Eight had sequence changes in the gene including 2 frame shift mutations, three missense mutations and three mutations altering residue in a highly conserved intracellular domain. Four polymorphic variants were also found. Mental retardation in these individuals range from moderate to severe and five patients had seizures. Two showed autistic behaviour. None were hypertensive.
Bienvenu et al., (2003) performed mutation analysis of the AGTR2 gene in 15 large families with MR linked to Xq24, from a panel of 101 clinically well characterised small families with at least two affected boys with MR, and in 244 sporadic cases of non-specific MR. DHPLC analysis of the entire coding region detected no deleterious mutations. A novel C117F amino acid substitution was identified as a non-pathogenic rare genetic variant.. A Japanese child was reported by Takeshita et al., (2012), with serious delay, autistic features, hyperactivity, poor concentration and impulsivity
* This information is courtesy of the L M D.
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What gene changes cause Agtr2 - X-Linked Mental Retardation?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 Agtr2 - X-Linked Mental Retardation?
The typical symptoms of the syndrome are:
How does someone get tested for Agtr2 - X-Linked Mental Retardation?
The initial testing for Agtr2 - X-Linked Mental Retardation 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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