Lubs X-Linked Mental Retardation syndrome (MRXSL)

What is Lubs X-Linked Mental Retardation syndrome (MRXSL)?

Also known as Mecp2 Duplication syndrome this rare genetic condition is a progressive disorder, meaning symptoms associated with the disease worsen over time.

The syndrome primarily affects males. Affected individuals often have a short life expectancy, with over 50% dying before the age of 25 years old.

The main symptoms of the syndrome are neurological and developmental.

What gene changes cause Lubs X-Linked Mental Retardation syndrome (MRXSL)?

It is caused by the presence of an extra copy of the MECP2 gene.

It is an X-linked recessive disorder. This means females are carriers and may show very mild symptoms of the syndrome.

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 Lubs X-Linked Mental Retardation syndrome (MRXSL)?

Common symptoms of the syndrome include low muscle tone and progressive spasticity.

Developmental delay as well as severe intellectual disability are also major features of the syndrome. Some individuals are diagnosed with autistic features and behaviors.

Other health conditions associated with the syndrome include respiratory infections that reoccur frequently, and are the leading cause of the lowered life expectancy in affected individuals. Seizures are also common.

How does someone get tested for Lubs X-Linked Mental Retardation syndrome (MRXSL)?

The initial testing for Lubs X-Linked Mental Retardation 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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