Mental Retardation, X-Linked, Syndromic, Bain Type

What is Mental Retardation, X-Linked, Syndromic, Bain Type?

It is a rare genetic syndrome, the main symptoms of which include intellectual disability, autism, low muscle tone and seizures. The syndrome only affects females, due to the way in which it is inherited.

This syndrome is also known as:
MRXSB

What gene changes cause Mental Retardation, X-Linked, Syndromic, Bain Type?

Mutations in the HNRNPH2 gene are responsible for causing the syndrome. The syndrome is an X-linked disorder.

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.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Mental Retardation, X-Linked, Syndromic, Bain Type?

The main symptoms of the syndrome include developmental delay as well as developmental regression. This means the loss of skills an individual had already acquired. Individuals generally do not develop speech. Some affected individuals also develop other disorders related to mental development including attention deficit hyperactivity disorder, anxiety and obsessive compulsive disorder. Autism is also diagnosed in some affected individuals.

Other symptoms include a small head, unique facial features (including a small jaw and wide set eyes) and a short stature.

How does someone get tested for Mental Retardation, X-Linked, Syndromic, Bain Type?

The initial testing for Mental Retardation, X-Linked, Syndromic, Bain Type can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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