Mental Retardation X-Linked 102 (MRX102)

What is Mental Retardation X-Linked 102 (MRX102)?

This rare disease is a genetic syndrome that affects multiple parts of the body. Intellectual disability is a major feature of the condition.

It is also now referred to as intellectual developmental disorder, X-linked syndromic, Snijders Blok Type.

What gene changes cause Mental Retardation X-Linked 102 (MRX102)?

The syndrome is caused by changes in the DDX3X gene. The condition is inherited in an X-linked pattern.

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.

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 102 (MRX102)?

Intellectual disability is a major symptom of the syndrome. This disability may range from mild to severe. Behavioral issues are common with the condition.

Low muscle tone and restricted movement or mobility development are also characteristic of the syndrome. As are seizures, specifically epilepsy.

Physical features of the syndrome include a cleft lip and/pr palate, hearing and vision loss.

Symptoms may also affect the pigmentation of the skin and trigger early puberty in affected individuals.

How does someone get tested for Mental Retardation X-Linked 102 (MRX102)?

The initial testing for Mental Retardation X-Linked 102 syndrome 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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